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Personnel

BDSRA

Heather Adams, PhD is Associate Professor of Neurology and Pediatrics. She is a pediatric neuropsychologist and licensed Clinical Child Psychologist. Dr. Adams conducts neuropsychological evaluations, provides support to families and schools for behavioral and learning concerns, and conducts research on the neurobehavioral, psychosocial, and quality of life impacts of NCL disorders.

Erika F. Augustine, MD is Associate Professor of Neurology and Pediatrics. She is PI of the Juvenile Mycophenolate Phase II clinical trial in Batten disease (JUMP study) and the Function and Quality of Life in JNCL study.

Kris Bonifacio is a study coordinator who assists with various URBC research studies.

Mina Chung, MD is an Associate Professor of Ophthalmology at the Flaum Eye Institute and Center for Visual Science at the University of Rochester. Her clinical vitreoretinal practice includes a focus on inherited retinal degenerations, and her research interest is in the application of imaging technology to the study of macular and retinal degenerations.

Shannon Dean, MD, PhD is an Instructor of Neurology and a movement disorder specialist with a special interest in stereotypies: rhythmic, repetitive movements such as hand flapping and finger wiggling that are often seen in children with Batten Disease as well as others.

John J. Foxe, PhD is the Director of the Ernest J. Del Monte Institute for Neuroscience. He is Professor and Chair of Neuroscience and is the Killian J. and Caroline F. Schmitt Chair in Neuroscience. His lab uses neuroimaging and electrophysiological approaches to explore potential biomarkers of disease progression in neurodevelopmental disorders. His team are working on developing specific outcome measures for Battens Disease.

Nasir Maidanwal, MD, MPH is a research coordinator and facilitates research activities at the URBC. He has worked with various International organizations such as WHO, MSH, and USAID.

Frederick J. Marshall, MD is Professor of Neurology and a specialist in neurodegenerative diseases. He has collaborated with the Batten’s team at the University of Rochester since 2002.

Jonathan W. Mink, MD PhD is Director of the URBC. He is the Frederick A. Horner Endowed Professor in Pediatric Neurology and Chief of the Child Neurology Division at the University of Rochester Medical Center (URMC). He is one of the founding members of the URBC.

Paul G. Rothberg, PhD is Professor of Pathology and Laboratory Medicine and is Director of the Molecular Diagnosis Laboratory at URMC. He conducts genetic testing.

Ruchira Singh, PhD is Assistant Professor in the Department of Ophthalmology and the Department of Biomedical Genetics at University of Rochester Medical Center. She is the principal investigator of a study which examines how neurodegenerative diseases, such as juvenile Batten disease, cause blindness.

Alyssa Thatcher, MS, CCLS is a study coordinator who works on multiple URBC research studies.

Jennifer Vermilion, MD is an Instructor of Neurology and a Pediatric Movement Disorders Fellow in Experimental Therapeutics. She has studied sex differences in Batten disease progression, feasibility of remote administration of the UBDRS, and the effects of flupirtine on Batten disease course.

Amy Vierhile, DNP, RN is a Pediatric Nurse Practitioner in Child Neurology at the University of Rochester Medical Center. She helps coordinate research study visits for patients with Batten disease and assists with clinical trial enrollment and study activities .

study group

URMC Batten Study Group
Back row: Heather Adams, Sara Defendorf, Frederick Marshall, Alyssa Thatcher, and Paul Rothberg. Front row: Lisa DeBlieck, Jonathan Mink, Amy Vierhile, and Erika Augustine.

Current and Past Students

students

Students Aimee Morris, Shayne Ragbeer, Katherine Rose, and Sarah Pearl Aronow-Werner (left to right)

  • Ankita Agarwal, MD
  • Travis Amengual
  • Sarah Pearl Aronow-Werner
  • Elizabeth Cozart
  • Danielle DeCampo, PhD
  • Jared DeYoung, MD
  • Julie Eisengart, PhD
  • Anna Gekker, PhD
  • Rachel Jordan
  • Toby Kashket
  • Melissa Wang Ko, MD
  • Casey Lower
  • Tiffani McDonough, MD
  • Aimee Morris
  • Amanda Onalaja
  • Denia Ramirez-Montealegre, MD, PhD
  • Shayne Ragbeer, PhD
  • Jennifer Riehl, MD
  • Katherine Rose, MD
  • Nicola Ross, MD
  • Sabrina Seehafer, PhD
  • Erika Levy Wexler, MD
  • Justin Williams
  • Kimberly Worcester, MD