Jonathan W. Mink, MD PhD is the medical director of the Batten Disease Diagnostic and Clinical Research Center. He is Chief of the Division of Child Neurology in the Department of Neurology at the University of Rochester Medical Center. Dr. Mink has examined over 30 children with JNCL while developing the UBDRS. Dr. Mink is familiar with other forms of NCL through his practice and training as a Child Neurologist.

Frederick J. Marshall, MD is Chief of Neurology at Monroe Community Hospital, the University of Rochester’s 540-bed longterm care facility. He is a board certified neurologist with fellowship training in movement disorders and in experimental therapeutics. Dr. Marshall received BDSRA funding to develop the UBDRS, and with Dr. Mink, has evaluated more than 30 children with JNCL.

Jennifer M. Kwon, MD is a child neurologist with clinical and research interests in neurogenetic and neurodegenerative disorders. She has familiarity with other forms of lysosomal storage disorders through her practice in child neurology and has attended an NIH special meeting to discuss the future of gene therapy trials in these disorders. She has also participated in the development of the UBDRS and has evaluated many JNCL patients with Drs. Mink and Marshall.

Heather Adams, PhD is the neuropychologist for the Batten Disease Diagnostic and Clinical Research Center. She is a Senior Instructor in the Department of Pediatrics (Clinical Research Office) at the University of Rochester. As part of the UBDRS research team and through her study of neuropsychological and behavioral symptoms in JNCL, Dr. Adams has evaluated behavioral and psychiatric symptoms in over 30 children with JNCL through parent interviews of child functioning, and has conducted brief neuropsychological examinations on a subset of these children.

David A. Pearce, PhD is an internationally recognized expert in Batten disease research. His research lab has published more than 30 articles on Batten disease. Further information on the ongoing studies can be viewed at Dr. Pearce’s lab website http://dbb.urmc.rochester.edu/labs/pearce/index.htm

Paul G. Rothberg, PhD is the Director of the Section of Molecular Diagnosis of the Department of Pathology and Laboratory Medicine at the University of Rochester Medical Center. Dr. Rothberg is responsible for the genetic (DNA) diagnosis of children with JNCL.

Elisabeth de Blieck, MPA CCRC is a Senior Clinical Project Coordinator at the Clinical Trials Coordination Center at the University of Rochester. Ms. de Blieck has over 15 years experience in administrative project management and clinical trials coordination. She has been the project manager for several past and ongoing multi-center clinical trials (including the federal Maternal and Child Health Bureau, NINDS, and the FDA Orphan Drug Products grant program) in Pediatrics and Neurology for several study groups, including the Huntington Study Group, Parkinson Study Group, Tourette Syndrome Study Group, Batten Study Group and the HIV/AIDS Neurologic Consortium and will serve in that capacity again for this project.

Amy Vierhile, RN PNP is a Pediatric Nurse Practitioner who has worked in Child Neurology since 1996. She works in conjuction with Dr. Mink, answering patient phone calls, adjusting medications as needed and facilitating medical services for patients. Amy will be the initial contact person for the Batten Disease Diagnostic and Clinical research Center at the University of Rochester Medical Center.