Rare Disease

Roughly 400 million people worldwide are affected by any of the 8,000 known rare diseases; many more people remain undiagnosed. The impact of these conditions ranges from mild to debilitating, and they often affect patients in multiple, complex ways. And because any single disease may affect a dozen people or fewer worldwide, the road to diagnosis and care is often long and uncertain. 

Researchers at Ó³»­´«Ã½ are accelerating progress in the study and treatment of rare diseases in three main areas. 

Leaders of the Ó³»­´«Ã½ announced today the completion of a critical step on the path toward establishing a Clinical Research Sequencing Platform (CRSP) at the Ó³»­´«Ã½. 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.