/ en /news/research-roundup-april-19-2019 <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Fri, 19 Apr 2019 15:41:21 +0000 Namrata Sengupta 505716 at /news/calculating-genetic-risk-obesity <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Thu, 18 Apr 2019 14:48:11 +0000 kzusi@broadinstitute.org 504271 at /news/study-highlights-need-increase-diversity-within-genetic-data-sets <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Fri, 29 Mar 2019 16:01:12 +0000 Namrata Sengupta 488171 at /blog/whyiscience-qa-surgeon-and-statistician-derek-klarin-looks-combat-cardiovascular-disease-multiple-fronts <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Mon, 12 Nov 2018 05:05:00 +0000 veronica@broadinstitute.org 394841 at /news/research-roundup-october-5-2018 <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Fri, 05 Oct 2018 13:44:28 +0000 tulrich@broadinstitute.org 367521 at /news/research-roundup-september-14-2018 <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Fri, 14 Sep 2018 14:48:00 +0000 tulrich@broadinstitute.org 352791 at /news/depth-polygenic-risk-scoring <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Mon, 27 Aug 2018 14:44:58 +0000 leah@broadinstitute.org 340086 at /news/predicting-risk-common-deadly-diseases-millions-genetic-variants <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Mon, 13 Aug 2018 15:00:51 +0000 kzusi@broadinstitute.org 329356 at /blog/all-us-launches <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Fri, 18 May 2018 13:01:32 +0000 tulrich@broadinstitute.org 269481 at /news/single-genetic-variant-regulates-gene-edn1-affect-risk-multiple-vascular-disorders <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"> <span>By Namrata Sengupta</span> </span> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> <div class="hero-section container"> <div class="hero-section__row row"> <div class="hero-section__content hero-section__content_left col-6"> <div class="hero-section__breadcrumbs"> <div class="block block-layout-builder block-extra-field-blocknodenewsbreadcrumbs"> <nav class="breadcrumb" role="navigation" aria-labelledby="system-breadcrumb"> <h2 id="system-breadcrumb" class="visually-hidden">Breadcrumb</h2> <ol> <li> <a href="/">Home</a> </li> <li> <a href="/news">News</a> </li> </ol> </nav> </div> </div> <div class="hero-section__title"> <div class="block block-layout-builder block-field-blocknodenewstitle"> <span class="field field--name-title field--type-string field--label-hidden"><h1>Research Roundup: April 19, 2019</h1> </span> </div> </div> <div class="hero-section__description"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><div class="summary-only"> <p dir="ltr"><span id="docs-internal-guid-695f0694-7fff-62d2-6003-6b39a1a1902d">Calculating genetic risk scores for obesity, new insights about leukemia drugs, and more.</span></p> <div>&nbsp;</div> </div> </div> </div> </div> <div class="hero-section__author"> <div class="block block-layout-builder block-extra-field-blocknodenewsextra-field-author-custom"> By Ó³»­´«Ã½ Communications </div> </div> <div class="hero-section__date"> <div class="block block-layout-builder block-field-blocknodenewscreated"> <span class="field field--name-created field--type-created field--label-hidden"><time datetime="2019-04-19T11:41:21-04:00" class="datetime">April 19, 2019</time> </span> </div> </div> </div> <div class="hero-section__right col-6"> <div class="hero-section__image"> <div class="block block-layout-builder block-field-blocknodenewsfield-image"> <div class="field field--name-field-image field--type-entity-reference field--label-hidden field__item"> <article class="media media--type-image media--view-mode-multiple-content-types-header"> <div class="field field--name-field-media-image field--type-image field--label-hidden field__item"> <picture> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1921px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop_xl/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=3aGD0HeF 1x" media="all and (min-width: 1601px) and (max-width: 1920px)" type="image/jpeg" width="754" height="503"> <source srcset="/files/styles/multiple_ct_header_desktop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=T0DFxqhh 1x" media="all and (min-width: 1340px) and (max-width: 1600px)" type="image/jpeg" width="736" height="520"> <source srcset="/files/styles/multiple_ct_header_laptop/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=fCHtOYOn 1x" media="all and (min-width: 800px) and (max-width: 1339px)" type="image/jpeg" width="641" height="451"> <source srcset="/files/styles/multiple_ct_header_tablet/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=sInjYsGN 1x" media="all and (min-width: 540px) and (max-width: 799px)" type="image/jpeg" width="706" height="417"> <source srcset="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw 1x" media="all and (max-width: 539px)" type="image/jpeg" width="499" height="294"> <img loading="eager" width="499" height="294" src="/files/styles/multiple_ct_header_phone/public/news/images/2019/jacobs-day1-7_1.jpg?h=eb03d1b5&amp;itok=kWe_lmcw" alt="Erik Jacobs" typeof="foaf:Image"> </picture> </div> <div class="media-caption"> <div class="media-caption__credit"> Credit: Erik Jacobs </div> <div class="media-caption__description"> </div> </div> </article> </div> </div> </div> </div> </div> </div> <div class="content-section content-section_with-sidebars container"> <div class="row"> <div class="content-section__left col-2"> <div class="block block-better-social-sharing-buttons block-social-sharing-buttons-block"> <div style="display: none"><link rel="preload" href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg" as="image" type="image/svg+xml" crossorigin="anonymous"></div> <div class="social-sharing-buttons"> <a href="https://www.facebook.com/sharer/sharer.php?u=/taxonomy/term/781/feed&amp;title=" target="_blank" title="Share to Facebook" aria-label="Share to Facebook" class="social-sharing-buttons-button share-facebook" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#facebook" /> </svg> </a> <a href="https://twitter.com/intent/tweet?text=+/taxonomy/term/781/feed" target="_blank" title="Share to X" aria-label="Share to X" class="social-sharing-buttons-button share-x" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#x" /> </svg> </a> <a href="mailto:?subject=&amp;body=/taxonomy/term/781/feed" title="Share to Email" aria-label="Share to Email" class="social-sharing-buttons-button share-email" target="_blank" rel="noopener"> <svg aria-hidden="true" width="32px" height="32px" style="border-radius:100%;"> <use href="/modules/contrib/better_social_sharing_buttons/assets/dist/sprites/social-icons--no-color.svg#email" /> </svg> </a> </div> </div> </div> <div class="content-section__main col-8"> <div class="block block-layout-builder block-field-blocknodenewsbody"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Welcome to the April 19, 2019 installment of </span><a href="/search?keywords=research+roundup&amp;op=Search" target="_blank">Research Roundup</a>, a recurring snapshot of recent studies published by scientists at the Ó³»­´«Ã½ and their collaborators.</p> <h3>Calculating genetic risk for obesity</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">A team led by associate scientist Amit Khera, associate computational biologist Mark Chaffin, and institute member, </span><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a> director, and <a href="/node/8507" target="_blank">Program in Medical and Population Genetics (MPG)</a> co-director Sekar Kathiresan has developed a polygenic score for obesity — a quantitative tool that predicts an individual’s inherited risk for becoming overweight. The researchers report in <em><a href="https://www.cell.com/cell/fulltext/S0092-8674(19)30290-9" target="_blank">Cell</a></em> that a genetic predisposition to obesity begins to appear in early childhood and is often clearly evident by early adulthood; adults with the highest polygenic scores weighed nearly 30 pounds more on average than those with the lowest, and were 25 times as likely to be severely obese. The team hopes that the score will enable new opportunities for biological understanding and clinical interventions. Read more in a <a href="/node/504271" target="_blank">Ó³»­´«Ã½ news story</a> and coverage from <em><a href="https://www.statnews.com/2019/04/18/a-new-genetic-test-can-offer-clues-and-only-clues-to-a-persons-risk-of-obesity/" target="_blank">STAT</a></em>, <em><a href="https://www.apnews.com/60317e7a5ab54f1684c21eace9b953f9" target="_blank">Associated Press</a></em>, <em><a href="https://www.nytimes.com/2019/04/18/health/genetics-weight-obesity.html" target="_blank">The New York Times</a></em>, <em><a href="https://www.wbur.org/commonhealth/2019/04/18/genetic-risk-obesity-study" target="_blank">WBUR</a></em>, and <em><a href="https://www.wsj.com/articles/new-risk-scores-assess-ties-between-genes-and-obesity-disease-11555599600" target="_blank">The Wall Street Journal</a></em>.</p> <h3>CRISPR meets chemical profiling</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">In </span><em><a href="https://www.nature.com/articles/s41589-019-0263-0" target="_blank">Nature Chemical Biology</a></em>, a team led by associate member Brian Liau in the <a href="/node/8831" target="_blank">Epigenomics Program</a> and colleagues, with collaborators in the <a href="/node/8511" target="_blank">Genetic Perturbation Platform</a>, reports a new method to explore interactions between proteins and small molecules. Called CRISPR-suppressor scanning, the approach combines CRISPR-Cas9 edits with small molecule screens to systematically identify mutations that alter a protein’s response to drugs. The team tested this method by profiling drug-protein interactions in acute myeloid leukemia (AML), and clarified how LSD1 inhibitor drugs work in treating AML. Learn more in a <a href="https://chemistry.harvard.edu/news/scanning-cancer-treatment" target="_blank">Harvard news story</a>.</p> <h3>Scanning the genome with IMPACT</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">Despite the tremendous progress made with genome-wide association studies, researchers still don’t have a complete understanding of the non-coding region of the human genome. Locating binding sites of specific proteins called transcription factors (TFs), which regulate gene expression, is a feasible approach for identifying the regulatory regions of the non-coding genome. Reporting in&nbsp;</span><em><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(19)30108-9" target="_blank">American Journal of Human Genetics</a></em>, graduate student Tiffany Amariuta, associate member Alkes Price, institute member Soumya Raychaudhuri of MPG, and colleagues introduce IMPACT, a mathematical model that can predict binding profiles of TFs with much greater accuracy while identifying regions contributing to the variance we observe in human disease.</p> <h3>To treat leukemia, two drugs may be better than one</h3> <p dir="ltr"><span id="docs-internal-guid-a9d2bd83-7fff-8a41-f879-7479049f2ae2">The enzyme asparaginase, which breaks down the amino acid asparagine in the bloodstream, is used as a drug to treat leukemia. Deprived of asparagine, most leukemia cells die, while healthy cells remain mostly unaffected. However, many pediatric patients develop resistance to asparaginase treatment. Using a genome-wide CRISPR/Cas9 screen and a mouse model study, associate member Alejandro Gutierrez of MPG and colleagues identified a lethal interaction between a signaling pathway and asparaginase in acute leukemias resistant to this enzyme. The findings suggest how two drugs used in combination may help overcome resistance, thus offering hope to patients with leukemia. Read more in&nbsp;</span><a href="https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30149-7" target="_blank"><em>Cancer Cell</em></a> and Boston Children’s Hospital’s&nbsp;<a href="https://vector.childrenshospital.org/2019/04/overcoming-leukemia-drug-resistance/" target="_blank">Vector blog</a>.</p> <div><em>To learn more about research conducted at the Ó³»­´«Ã½, visit&nbsp;</em><a href="/publications" target="_blank"><em>broadinstitute.org/publications</em></a><em>, and keep an eye on&nbsp;</em><a href="/news" target="_blank"><em>broadinstitute.org/news</em></a><em>.</em></div> </div> </div> <div class="block-node-broad-tags block block-layout-builder block-field-blocknodenewsfield-broad-tags"> <div class="block-node-broad-tags__row"> <div class="block-node-broad-tags__title">Tags:</div> <div class="field field--name-field-broad-tags field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/broad-tags/genetic-perturbation" hreflang="en">Genetic Perturbation Program</a></div> <div class="field__item"><a href="/broad-tags/medical-and-population-genetics" hreflang="en">Medical and Population Genetics Program</a></div> <div class="field__item"><a href="/broad-tags/cancer" hreflang="en">Cancer</a></div> <div class="field__item"><a href="/broad-tags/cardiovascular-disease" hreflang="en">Cardiovascular disease</a></div> <div class="field__item"><a href="/broad-tags/crispr" hreflang="en">CRISPR</a></div> <div class="field__item"><a href="/broad-tags/sekar-kathiresan" hreflang="en">Sekar Kathiresan</a></div> </div> </div> </div> </div> <div class="content-section__right col-2"> <div class="block block-ctools block-entity-viewnode"> <article about="/news/research-roundup-april-19-2019" class="node node--type-news node--promoted node--view-mode-sidebar"> <div class="node__content"> <div class="sidebar-group"> <div class="sidebar-group__content"> <div class="block block-layout-builder block-field-blocknodenewsfield-news-extra-info"> <div class="clearfix text-formatted field field--name-field-news-extra-info field--type-text-long field--label-hidden field__item"><h2>Related Programs</h2> <p dir="ltr"><a href="/node/8510/" target="_blank">Cardiovascular Disease Initiative</a></p> <p dir="ltr"><a href="/node/8507" target="_blank">Program in Medical and Population Genetics </a></p> <p><a href="/node/8831" target="_blank">Epigenomics Program</a></p> <p><a href="/node/8511" target="_blank">Genetic Perturbation Platform</a></p> <h2>Related News</h2> <div><span id="docs-internal-guid-12142c59-7fff-4b36-92e8-00c1e77ecb2c"><a href="/node/504271" target="_blank">Calculating genetic risk for obesity</a></span></div> </div> </div> </div> </div> </div> </article> </div> </div> </div> </div> Thu, 27 Jul 2017 16:33:27 +0000 kzusi@broadinstitute.org 66846 at