Rare Diseases

A rare disease is defined as a disease that affects fewer than 200 000 people in the United States. Taken together, there are more than 8,000 rare diseases that affect over 30 million people in the United States.  Traditional, large-sample statistical approaches are often limited for studying rare diseases because of the small number of individuals experiencing the same disease.  Thus, it is difficult to accurately identify risk factors and develop severity scores for diagnosis of rare diseases, as well as developing effective therapies and drugs that can be approved for treatment.  Our department is developing novel clinical trial designs for comparing multiple doses of a drug by re-randomizing enrolled individuals with response adaptive methods in order to efficiently “re-use” patients and still produce unbiased estimates of treatment effects.  The design of such trials is known as small sample sequential, multiple assignment randomized trial (sn-SMART).  Faculty are also collaborating with medical investigators to develop international databases and registries of individuals with rare diseases, with the goal of integrating data among many different rare diseases and provide novel risk factors, biomarkers, and disease severity scores for rare diseases including lipodystrophy and skin vasculitis.

Faculty:  T. Braun, K. Kidwell, Cathie Spino, Wen Ye