Skip to main content

menu

News

20242022202120202019

The University of Rochester Intellectual and Developmental Disabilities Research Center is transforming the landscape of exploration

Monday, January 29, 2024

Photo of Student in EEG Booth

Batten disease is a devastating rare genetic disorder. While the genetic flaw that causes this disease is well known, scientists do not fully understand the connection between this mutation and the disease’s symptoms like behavioral changes, cognitive impairment, seizures, and vision loss. John Foxe, PhD, co-director of the University of Rochester Intellectual and Developmental Disabilities Research Center (UR-IDDRC), recently described a potential neuro marker for the disease that could represent a way to better understand this complex disease and, ultimately, help researchers measure outcomes in clinical trials.

“We [researchers] know it is a genetic single gene mutation that causes Batten disease and as a scientist that really gives us something to focus on,” said Foxe, who is also director of the Del Monte Institute for Neuroscience at the University of Rochester. “But clinically, what we do not fully understand is how the mutation changes connections in the brain. Our work has been aimed at developing a much better understanding of these changes and developing ways to measure these accurately. If we can figure out how to treat Batten disease, there's a very good chance we will gain insight into how to treat other rare diseases.”

The University is a recognized leader in Batten disease research and care and has been at the forefront of efforts to understand and treat this condition. The University of Rochester Batten Center (URBC) is designated as a Center of Excellence by the Batten Disease Support and Research Association (BDSRA), highlighting its commitment and expertise in advancing both research and treatment for this disease. In 2020, when the National Institute of Child Health and Human Development (NICHD) designated the University as an IDDRC, the disease became the Center’s principal project, and researchers identifying biomarkers to evaluate the effectiveness of experimental treatments became a renewed focus for faculty at the Medical Center. Foxe’s latest research, published in the Journal of Neurodevelopmental Disorders, is one example of how the IDDRC designation is transforming the IDD research landscape at the Medical Center.

“We [researchers] know it is a genetic single gene mutation that causes Batten disease and as a scientist that really gives us something to focus on,” said Foxe, who is also director of the Del Monte Institute for Neuroscience at the University of Rochester. “But clinically, what we do not fully understand is how the mutation changes connections in the brain. Our work has been aimed at developing a much better understanding of these changes and developing ways to measure these accurately. If we can figure out how to treat Batten disease, there's a very good chance we will gain insight into how to treat other rare diseases.”

The University is a recognized leader in Batten disease research and care and has been at the forefront of efforts to understand and treat this condition. The University of Rochester Batten Center (URBC) is designated as a Center of Excellence by the Batten Disease Support and Research Association (BDSRA), highlighting its commitment and expertise in advancing both research and treatment for this disease. In 2020, when the National Institute of Child Health and Human Development (NICHD) designated the University as an IDDRC, the disease became the Center’s principal project, and researchers identifying biomarkers to evaluate the effectiveness of experimental treatments became a renewed focus for faculty at the Medical Center. Foxe’s latest research, published in the Journal of Neurodevelopmental Disorders, is one example of how the IDDRC designation is transforming the IDD research landscape at the Medical Center.

Read More: The University of Rochester Intellectual and Developmental Disabilities Research Center is transforming the landscape of exploration