Fred Marshall, Amy Vierhile, Nicole Newhouse, Jon Mink, Paul Rothberg, Jennifer Kwon, Heather Adams, Erika Augustine, and Lisa de Blieck
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 50 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 40 children with JNCL.
Jennifer M. Kwon, MD is an Associate Professor of Neurology and Pediatrics. She is a child neurologist with considerable experience in both basic and clinical genetics research, clinical trial development, and neurogenetics. She has special interest in the screening and early treatment of neurodegenerative lysosomal storage disorders. She has been a member of the New York State Krabbe Consortium which formed in 2006 to oversee the clinical follow-up associated with the NYS Krabbe disease newborn screening program. She has also participated in the development of the UBDRS and has evaluated many JNCL patients with Drs. Mink and Marshall.
Erika F. Augustine, MD is a Senior Instructor of Neurology and Pediatrics. She is a board certified child neurologist with additional fellowship training in pediatric movement disorders. Dr. Augustine also has interest in clinical trial development, particularly in neurodegenerative disorders. Along with Drs. Mink and Marshall, she has examined many children with JNCL.
Heather Adams, PhD is the neuropychologist for the Batten Disease Diagnostic and Clinical Research Center. She is an Assistant Professor in the Departments of Neurology and Pediatrics at the University of Rochester. Dr. Adams’ current investigation, titled “Neurobehavioral Outcomes of Degenerative Neurologic Disease” studies cognitive and behavioral changes in juvenile neuronal ceroid lipofuscinosis (JNCL, or Juvenile Batten Disease), and the quality of life of children and the families (parents and siblings) affected by JNCL. As part of the UBDRS research team and through her study of neuropsychological and behavioral symptoms in JNCL, Dr. Adams has evaluated over 50 children with JNCL.
David A. Pearce, PhD is an internationally recognized expert in Batten disease research. His research lab has published more than 60 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. He is board certified in Clinical Molecular Genetics by the American Board of Medical Genetics. Dr. Rothberg is responsible for the genetic (DNA) diagnosis of children with NCL. The laboratory is currently approved by the New York State Department of Health for analysis of the CLN1, CLN2 and CLN3 genes.
Elisabeth de Blieck, MPA CCRC is a Program Manager at the Clinical Trials Coordination Center at the University of Rochester. Ms. de Blieck has over 20 years experience in administrative project management and clinical trials coordination. She has been the senior project manager for several past and ongoing industry and federally funded multi-center clinical trials (including Maternal and Child Health Bureau, National Institute for Neurological Disorders and Stroke, and the Food & Drug Adminstration’s Office of Orphan Products Development) in Pediatrics and Neurology for several study groups, including Maternal Child Health/General Pediatrics, Huntington Study Group, Parkinson Study Group, Tourette Syndrome Study Group, Batten Study Group and the HIV/AIDS Neurologic Consortium and is an active member the clinical trials planning team for Batten disease.
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 is the primary contact for the Batten Disease Diagnostic and Clinical Research Center, and her number is (585) 275-4762.
Nicole Newhouse graduated from Colgate University in 2008 with a Bachelors in Neuroscience. As the Health Project Coordinator for the center her job includes phone calls to families for survey completion, planning family research visits to Rochester, and organizing the groups trip to the BDSRA Conference every year.
Batten Study Group
601 Elmwood Ave
Rochester, NY 14642
(directed to Amy Vierhile)