Rare disease

ӳ��ý researchers study several rare inherited diseases, including muscle disorders, mitochondrial disorders, and kidney disease. Knowledge about risk factors for rare genetic diseases has the potential to illuminate the biology underlying these diseases, to improve the lives of patients through new diagnostic and therapeutic possibilities, and to shed light on related common diseases.

Credit: CDC/ Dr. Edwin P. Ewing, Jr.

Microscopic image of cross-sectional calf muscle from a person with Duchenne muscular dystrophy, showing extensive replacement of muscle fibers by fat cells

ӳ��ý 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 . Many of these efforts are coordinated by the ӳ��ý’s Program in Medical and Population Genetics.

The ӳ��ý’s also performs genetic sequencing of patients with rare disorders, producing data for research or clinical use.

The , which launched in January 2016, is focused on large-scale sequencing of patients with rare diseases, in collaboration with many clinical investigators.