What rare diseases do we study at URMC?

Rare diseases affect approximately 25 million people in the U.S., according to the National Institutes of Health. Less than 5 percent of these illnesses have a treatment; a dismal statistic that physicians and scientists at the University of Rochester Medical Center are working to change with the help of patients and their families.

Various forms of rare disease research take place across URMC, from basic laboratory studies to uncover the molecular mechanisms that drive a disorder, to clinical trials testing meaningful therapies for patients. Here is a small sampling of the illnesses we’re working to understand and improve:  

• Juvenile Batten disease is a very rare inherited genetic condition that strikes seemingly healthy children and progressively robs them of their abilities to see, reason and move. The University of Rochester Batten Center is the largest Batten disease clinical research group in the world and is conducting the first-ever controlled clinical trial of a therapy for juvenile Batten disease.

• Only about 800 new cases of hairy cell leukemia, an extremely rare and difficult to diagnose cancer, are diagnosed each year in the U.S. UR Medicine’s Wilmot Cancer Institute is one of only 23 institutions in the world with a Hairy Cell Leukemia Foundation-designated Center of Excellence, dedicated to improving treatment of hairy cell leukemia through research.

• More than 15 years of research led by URMC neurologists culminated in the first approved treatment for individuals with a rare neuromuscular disorder called periodic paralysis, which can have a significant impact on quality of life depending upon the frequency and severity of the paralytic “attacks” that are the hallmark of the disease. The therapy, dichlorphenamide (brand name Keveyis), was approved by the FDA in 2015.
• In the 1970s, there were no drugs or devices available to prevent or stop the dangerous arrhythmic episodes that plagued patients with Long QT Syndrome, a rare and potentially fatal heart rhythm disorder. Over the past 45 years, Rochester cardiologists have identified risk factors to enable early diagnosis of the disorder; discovered multiple treatment options to reduce the risk of sudden cardiac death; created the International LQTS Registry, one of the first gene registries for any disease in the world; and identified more than a dozen genes associated with the disease.  

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The University of Rochester Medical Center is home to approximately 3,000 individuals who conduct research on everything from cancer and heart disease to Parkinson’s, pandemic influenza, and autism. Spread across many centers, institutes, and labs, our scientists have developed therapies that have improved human health locally, in the region, and across the globe. To learn more, visit urmc.rochester.edu/research.