URMC Named Batten Disease Center of Excellence

The largest Batten Disease research and support organization in North America named the University of Rochester Medical Center (URMC) as a Batten Disease Center of Excellence today. The Ohio-based organization, Batten Disease Support and Research Association, has chosen URMC because of its comprehensive services for patients and its long clinical and research history with the disease.

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, terminal. The most common form is juvenile, in which symptoms begin between 5 and 8 years of age. There are between 500 and 1,000 people with Batten Disease in the United States and only a few thousand in the world.

“Finding treatment with a comprehensive team that has experience with the disease is incredibly hard for families,” said Jonathan Mink, M.D., Ph.D., chief of Child Neurology and professor of Neurology, Neurobiology & Anatomy and Pediatrics at URMC. “The Batten Disease Support and Research Association is hoping to streamline families’ search for expertise by endorsing centers like ours.”

URMC’s Batten Disease Diagnostic and Clinical Research Center has a comprehensive, team approach to diagnosing and treating Batten Disease, including pediatric neurologists, nurse practitioners, gastrointestinal and nutritional experts, and a geneticist and genetic counselors. 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. The center has 100 patients enrolled in studies.

For information on URMC’s Batten Disease Diagnostic and Clinical Research Center or to schedule an appointment, call (585) 275-4762.