University of Rochester Medical Center scientist Ruchira Singh, Ph.D., received a grant from the Knights Templar Eye Foundation to investigate how neurodegenerative diseases, such as juvenile Batten disease, cause blindness.
Singh, assistant professor of Ophthalmology and Biomedical Genetics, will use the $60,000 grant to create a human model of Batten disease (CNL3) using patient’s own cells. The project may lead to better understand the disease mechanisms, aiding in the development of drug therapies to preserve vision in affected patients.
Batten disease is a rare neurodegenerative syndrome that erupts with little warning. It first steals sight, then cripples cognitive and motor capacities, and while different variations of the disease brings a difference age of onset and progression, it is, ultimately, fatal. The most common form is juvenile Batten disease, with symptoms beginning between the ages of 5 and 8.
There are between 500 and 1,000 people with Batten disease in the United States and only a few thousand in the world.
University of Rochester Medical Center is a center of excellence for Batten disease because of the large team of clinical and scientific experts offering comprehensive clinical care and conducting novel research. The Batten Disease Diagnostic and Clinical Research Center has a comprehensive, team approach to diagnosing and treating Batten Disease. The center is also at the forefront in Batten Disease research, having recently uncovered the disease’s root in a genetic flaw that impairs cells’ abilities to rid toxic waste, ultimately killing brain cells. Singh will collaborate with physicians and scientist at the center through this study.