A grant will help a scientist at the University of Rochester Medical Center study how neurodegenerative diseases, such as juvenile Batten disease, can rob people of their sight.
Ruchira Singh, a scientist at the Flaum Eye Institute, received the $60,000 grant from the Knights Templar Eye Foundation Inc., university officials said.
Batten disease is a rare neurodegenerative syndrome that presents with little warning. It first steals sight, then cripples cognitive and motor abilities, and can be fatal. The most common form is juvenile Batten disease, with symptoms beginning at ages 5 to 8.
Singh, assistant professor of ophthalmology and biomedical genetics, plans to use the grant to create a human model of the Batten disease using the patient’s own cells. The project goal is to lead to a better understanding of the disease mechanisms, and aid in the development of drug therapies to preserve vision in affected patients.
The Batten Disease Diagnostic and Clinical Research Center at URMC recently uncovered the disease’s root in a genetic flaw that impairs cells’ abilities to rid toxic waste, ultimately killing brain cells, officials said.
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