Designated Batten Disease Center of Exceptional Medical Expertise: Batten Center
The University of Rochester Medical Center's Batten Disease Diagnostic and Clinical Research Center is leading the charge in understanding and potentially treating Batten disease, a rare neurodegenerative syndrome that affects sight, cognitive, and motor capacities. The centre has been endorsed as a Batten Disease Center of Excellence by the Batten Disease Support and Research Association.
The centre's research focuses on several key areas. Detailed neurocognitive monitoring is carried out using validated intelligence scales to track the disease's progression. A recent study from the centre demonstrated that the two latest versions of the Wechsler Intelligence Scale for Children (WISC-IV and WISC-V) perform comparably in children with Batten disease, supporting their combined use in neurocognitive evaluations to better characterize disease progression.
In addition to neurocognitive research, the centre is also engaged in molecular and cellular research to uncover treatment targets for Batten disease and related neurodegenerative diseases. Researchers such as Dr. Ruchira Singh are advancing treatment research, aiming towards therapies and possible cures, as demonstrated by several recent publications through 2024 and 2025 focusing on cellular and molecular mechanisms.
The centre's work integrates cognitive testing with molecular research, highlighting a comprehensive approach linking clinical assessment and treatment development for Batten disease. The centre's involvement in the broader research community, including international conferences like the upcoming NCL 2025 meeting in Australia, further supports their active contribution to ongoing research and clinical advances.
The Batten Disease Diagnostic and Clinical Research Center has a comprehensive team approach for diagnosing and treating Batten disease. The team includes pediatric neurologists, nurse practitioners, gastrointestinal and nutritional experts, a geneticist, and genetic counselors. The centre currently has 100 patients enrolled in studies.
Dr. Jonathan Mink, M.D., Ph.D., chief of Child Neurology and professor of Neurology, Neurobiology & Anatomy, and Pediatrics at the University of Rochester Medical Center, commented on the endorsement, stating that finding treatment with a comprehensive team experienced with the disease is difficult for families. He added that the centre's designation as a Batten Disease Center of Excellence will provide hope for many families affected by this rare and devastating disease.
Batten disease affects between 500 and 1000 people in the United States and only a few thousand worldwide. The most common form of the disease begins between 5 and 8 years of age. The centre's recent discovery of the disease's root in a genetic flaw that impairs cells' abilities to rid toxic waste is a significant step forward in understanding the disease and potentially developing effective treatments.
For more information on the Batten Disease Diagnostic and Clinical Research Center or to schedule an appointment, please contact (585) 275-4762. The centre's work is at the forefront in Batten disease research, providing hope for a future free from the devastating effects of this rare disease.
The Batten Disease Diagnostic and Clinical Research Center's research activities encompass health-and-wellness aspects, specifically focusing on neurological disorders like Batten disease, and medical-conditions related to such neurological disorders. The center's work in science, supported by various studies and international collaborations, aims to understand and potentially treat Batten disease and related neurological disorders, offering hope for those affected.
