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        1. Patient-partnered research Patients partner with our scientists to accelerate the pace of discovery and find better treatments.
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      1. Carlos Slim Center for Health Research The Slim Center aims to bring the benefits of genomics-driven medicine to Latin America, gleaning new insights into diseases with relevance to the region.
      2. Gerstner Center for Cancer Diagnostics The Gerstner Center is developing next-generation diagnostic technology for cancer detection and tracking disease progression.
      3. Klarman Cell Observatory The Klarman Cell Observatory is systematically defining mammalian cellular circuits, how they work together to create tissues and organs, and are perturbed to cause disease.
      4. Merkin Institute for Transformative Technologies in Healthcare The Merkin Institute is supporting early-stage ideas aimed at advancing powerful technological approaches for improving how we understand and treat disease.
      5. Novo Nordisk Foundation Center for Genomic Mechanisms of Disease This center is developing new paradigms and technologies to scale the discovery of biological mechanisms of common, complex diseases, by facilitating close collaborations between the Ó³»­´«Ã½ and the Danish research community.
      6. Eric and Wendy Schmidt Center The EWSC is catalyzing a new field of interdisciplinary research at the intersection of data science and life science, aimed at improving human health.
      7. Stanley Center for Psychiatric Research The Stanley Center aims to reduce the burden of serious mental illness by contributing new insights into pathogenesis, identifying biomarkers, and paving the way toward new treatments.
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      1. Art and science connection Explore the connection between art and science and how we bring together artists and Ó³»­´«Ã½ scientists through our artist-in-residence program, gallery exhibitions, and ongoing public conversations.
      2. Ó³»­´«Ã½ Discovery Center Visit our free public educational space that showcases how researchers at the Ó³»­´«Ã½ and their colleagues around the world seek to understand and treat human disease.
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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Houge SD, Hsieh TC, et al. Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.01.021
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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Laugwitz L, Buchert R, Olguín P, et al. EEFSEC deficiency: A selenopathy with early-onset neurodegeneration. American journal of human genetics. 2025;112(1):168-180. doi:10.1016/j.ajhg.2024.12.001
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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, et al. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.11.009
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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, et al. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.11.009
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Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants.
Montanucci L, Brünger T, Boßelmann CM, et al. Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants. Epilepsia. 2024. doi:10.1111/epi.18155
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Extracellular vesicles in neurodegenerative, mental, and other neurological disorders: Perspectives into mechanisms, biomarker potential, and therapeutic implications.
Kajitani GS, Xavier G, Villena-Rueda BE, Karia BTR, Santoro ML. Extracellular vesicles in neurodegenerative, mental, and other neurological disorders: Perspectives into mechanisms, biomarker potential, and therapeutic implications. Current topics in membranes. 2024;94:299-336. doi:10.1016/bs.ctm.2024.06.002
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Molecular and cellular context influences SCN8A variant function.
Vanoye CG, Abramova T V, DeKeyser JM, et al. Molecular and cellular context influences SCN8A variant function. JCI insight. 2024. doi:10.1172/jci.insight.177530
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Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records.
Boßelmann CM, Ivaniuk A, St John M, et al. Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records. Brain communications. 2024;6(2):fcae090. doi:10.1093/braincomms/fcae090
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, et al. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in medicine : official journal of the American College of Medical Genetics. 2023;26(2):101023. doi:10.1016/j.gim.2023.101023
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Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.
Oja KT, Ilisson M, Reinson K, et al. Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.29.23287640
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In March of 2020, Ó³»­´«Ã½ converted a clinical genetics processing lab into a large-scale COVID-19 testing facility in less than two weeks.

We've screened more than 1,275 cancer cell lines as part of the Cancer Dependency Map (DepMap).

Ó³»­´«Ã½ Genomics Platform sequences a whole human genome every four minutes.

More than 11,000 individuals living with cancer in the United States and Canada have partnered with Count Me In to share their experiences and help accelerate cancer research.

The Drug Repurposing Hub is one of the most comprehensive and up-to-date biologically annotated collections of FDA-approved compounds in the world. Researchers anywhere can explore more than 6,000 drugs in the hub and search for possible new uses for them to jump-start new drug discovery.

In 2021, our sustainability efforts sent more than 80 percent of waste from the Genomics Platform to either a recycling facility or to an incineration plant that generates electricity.

Through Ó³»­´«Ã½'s Scientists in the Classroom program, Ó³»­´«Ã½ researchers visit every 8th grade classroom in Cambridge each year to talk about genetics and evolution.

Every summer, 18 high school students spend six weeks at Ó³»­´«Ã½ working side-by-side with mentors on cutting-edge research.

In November 2022, Ó³»­´«Ã½â€™s Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th.

By the end of 2022, Ó³»­´«Ã½â€™s COVID-19 testing lab had processed more than 37 million tests.

Working with Addgene, Ó³»­´«Ã½ has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries.

The NeuroGAP-Psychosis project, a collaboration between the Stanley Center for Psychiatric Research and Harvard T.H. Chan School of Public Health to study the genetics of severe mental illness, has recruited more than 42,000 participants in Ethiopia, Kenya, Uganda, and South Africa.

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