Batten diseases are rare genetic disorders that affect 2 to 4 of every 100,000 infants born in the U.S. Genetic mutations disrupt the function of the nervous system causing vision loss and epilepsy starting between ages 5 and 10 and ultimately resulting in death in the 20’s or 30’s.
When Erika F. Augustine, M.D., assistant professor of Neurology and Pediatrics, and in the Center for Human Experimental Therapeutics began caring for patients almost 10 years ago, prospects for Batten disease treatments were limited. Now, Augustine and her colleagues are conducting clinical trials for a therapies that target the root of the disease rather than simply alleviating symptoms.
Below, Augustine, who serves as a member of the Strategic Leadership Group for the CTSI and has utilized the CTSI’s Clinical Research Center to conduct her clinical trials, discusses her research and why she became a doctor and a researcher.
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 http://www.urmc.rochester.edu/research.