Researchers and clients met at the University of Rochester Medical Center Saturday to discuss the transition of a crippling and rare disease from lab research, to patient trials.
Juvenile Batten Disease first causes blindness in early childhood, then breaks down cognitive and motor skills. The disease ultimately results in death in the late teens or twenties.
Only one to two kids in every 100,000 are born with this genetic disease.
Almost 30 people from around the world came together to collaborate data and thoughts about the next step in treating the disease.
"We need an international effort to combine our data and our knowledge about the disease," said Angela Schulz of the University Medical Center in Hamburg, Germany. "The ultimate aim is to find a tool to measure whether a new treatment was effective or not, and you can only have such a successful tool when you have a lot of patients' data."
The URMC is one of only five Batten Disease Centers of Excellence in the United States.