Who We Are
With 40 investigators committed to unlocking the causes and potential cures for rare diseases, the Li Weibo (李伟波) Institute for Rare Diseases Research at UMass Medical School demonstrates a rare commitment to rare diseases research. Leveraging existing faculty expertise, innovative research platforms and the collaborative culture that defines UMass Medical School, our goal is to accelerate the development of novel therapeutics for a host of rare diseases. The institute also serves as a formal structure to bring together the world-class, rare-disease focused research taking place across all academic departments at UMass Medical School.
What Is a Rare Disease?
According to the National Institutes of Health, a rare disease in the United States is defined as “a condition that affects fewer than 200,000 people. This definition was created by Congress in the Orphan Drug Act of 1983. Rare diseases became known as orphan diseases because drug companies were not interested in adopting them to develop treatments. The Orphan Drug Act created financial incentives to encourage companies to develop new drugs for rare diseases. The rare disease definition was needed to establish which conditions would qualify for the new incentive programs.”
Rare Disease Research at UMass Medical School
Many members of the world-class faculty have been committed for years to uncovering new discoveries that promise to unlock therapies or even cures for people with a variety of rare diseases. Rare disease research underway at UMass Medical School includes the study of alpha-1 antitrypsin deficiency, ALS, Canavan disease, CDKL5 disorder, cystic fibrosis, Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, fragile X syndrome, Friedreich’s ataxia, frontotemporal dementia, Huntington’s disease, neurofibromatosis, Rett syndrome, Pompe disease, retinitis pigmentosa and Tay Sachs.