Rare Disease

ӳý scientists employ a variety of approaches, including DNA and RNA sequencing, to identify genetic variants that give rise to rare disease. They also study patterns of trait or disease inheritance in families, in addition to analyzing so-called “isolated populations,” such as Finland. Resources used in the study of rare disease include data from the 1000 Genomes Project and the .

Leaders of the ӳý announced today the completion of a critical step on the path toward establishing a Clinical Research Sequencing Platform (CRSP) at the ӳý. The institute has passed its Massachusetts state inspection, and now has approval from the state to begin processing clinical samples under CLIA – a certification allowing diagnostic laboratories to perform clinical testing, including sequencing, on patient samples.

Focusing on fine features in order to see "the big picture" seems almost counterintuitive, but that is exactly what is happening in the field of genomics. Researchers are sequencing human genomes, cataloging the variation in people's genetic code – the As, Ts, Gs, and Cs of human DNA that serve as each individual’s biological blueprint – to get a broader view of human health, a deeper knowledge of human genetic history, and a clearer understanding of why some people develop certain diseases while others do not.

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. Today in the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.