Neurodegenerative Diseases

photo for neurodegenerative disease

From left Drs. Thomas Langan, Yungki Park, M. Laura Feltri, Pablo Paez, and Lawrence Wrabetz of the Hunter James Kelly Research Institute 

Researchers at UB’s New York State Center of Excellence in Bioinformatics & Life Sciences (CBLS) are committed to fighting neurodegenerative diseases, which damage or destroy neurons in the brain. Among the most devastating neurodegenerative diseases are those affecting myelin, an electrically insulating material essential to the proper functioning of the nervous system. 

Hunter James Kelly Research Institute (HJKRI)

Located inside the CBLS, the Hunter James Kelly Research Institute focuses on basic research related to myelin and its diseases; and clinical research dedicated to providing better diagnostic, prognostic and therapeutic options for Krabbe disease and leukodystrophy patients.

The work of five highly specialized laboratories is related to the mission to develop a multi-disciplinary approach to understand how myelin is formed, how axons and myelin are damaged in disease and how they may be repaired. In addition, the institute provides a range of activities and services designed to support both those suffering from Krabbe disease and leukodystrophies and the public at large.

Clinical activities include:

Newborn screening

  • Identify babies with positive newborn screens
  • Maintain long-term follow-up
  • Provide references for possible hematopoietic cell transplantation
  • Establish and maintain a model for screening children with Krabbe disease and other lysosomal disorders

The Worldwide Krabbe Registry

  • International registry of patients with Krabbe disease established in 2008
  • Improve understanding of the natural history of Krabbe disease
  • Determine the parameters that might predict Krabbe disease and other lysosomal disorders
  • Access and review parent questionnaires and records 
  • Focus on clinical symptoms, disease course and family history 

Awareness programs

  • Increase awareness of Krabbe disease through education
  • Active partnership with Hunter’s Hope Foundation
  • Advise state newborn screening advisory panels 
  • Foster collaboration among investigators
  • Conduct annual workshop on Krabbe disease

Clinical care

  • Provide clinical care for children with Krabbe disease and newborns with positive screens
  • Established at the Women & Children’s Hospital of Buffalo
  • Designed to incorporate an active translational research component