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Personnel

BDSRA

Heather Adams, PhD is Assistant Professor of Neurology and Pediatrics. She is a neuropsychologist and the Principal Investigator (PI) of the Juvenile Batten Disease and Clinical Trial Endpoints study and the LINCL Study of Adaptive Behavior and Family Impact.

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.

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.

Frederick J. Marshall, MD is Associate Professor of Neurology and Director of the Memory Care Program at URMC. He is Co-PI of the JUMP study.

Jonathan W. Mink, MD PhD is medical director of the URBC. He is Professor of Neurology and Pediatrics and Chief of the Child Neurology Division at the University of Rochester Medical Center (URMC). He is PI of the Batten disease natural history study and co-PI of the JUMP study.

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 is a study coordinator for the Batten disease natural history study, Function and Quality of Life in JNCL study, LINCL Study of Adaptive Behavior and Family Impact, and Juvenile Batten Disease and Clinical Trial Endpoints study.

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, RN PNP is a Pediatric Nurse Practitioner in Child Neurology at URMC. She is a study coordinator for the Batten disease natural history study and the JUMP study.

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