Our Team
Our Team
The University of Rochester Batten Center (URBC) brings together clinicians, researchers, coordinators, trainees, and collaborators dedicated to improving the lives of individuals and families affected by Batten disease (neuronal ceroid lipofuscinoses; NCLs).
Our multidisciplinary team includes experts in pediatric neurology, neuropsychology, neurogenetics, ophthalmology, neuromuscular medicine, neuropalliative care, and translational neuroscience. Together, we provide comprehensive clinical care, advance innovative research, train future leaders in rare disease medicine, and collaborate nationally and internationally to accelerate progress in Batten disease.
Core Leadership, Research, and Clinical Team
Jennifer Vermilion, MD
Director of the University of Rochester Batten Center; Associate Professor of Neurology and Pediatrics. Dr. Vermilion’s research focuses on Batten disease progression, remote administration of the Unified Batten Disease Rating Scale (UBDRS), and therapeutic approaches in Batten disease. She also serves as Director of the Pediatric Movement Disorders Fellowship Program.
Director of the University of Rochester Batten Center; Associate Professor of Neurology and Pediatrics. Dr. Vermilion’s research focuses on Batten disease progression, remote administration of the Unified Batten Disease Rating Scale (UBDRS), and therapeutic approaches in Batten disease. She also serves as Director of the Pediatric Movement Disorders Fellowship Program.
Heather Adams, PhD
Professor of Neurology and Pediatrics; Pediatric Neuropsychologist. Dr. Adams conducts neuropsychological evaluations and supports families and schools in addressing behavioral and learning concerns. Her research focuses on the neurobehavioral, psychosocial, and quality-of-life impacts of NCL disorders.
Professor of Neurology and Pediatrics; Pediatric Neuropsychologist. Dr. Adams conducts neuropsychological evaluations and supports families and schools in addressing behavioral and learning concerns. Her research focuses on the neurobehavioral, psychosocial, and quality-of-life impacts of NCL disorders.
Amy Vierhile, DNP, RN, PPCNP-BC
Pediatric Nurse Practitioner, Child Neurology. Amy helps coordinate Batten disease clinical and research visits and assists with clinical trial enrollment and study activities.
Pediatric Nurse Practitioner, Child Neurology. Amy helps coordinate Batten disease clinical and research visits and assists with clinical trial enrollment and study activities.
Marianna Pereira-Freitas, BA
Research Coordinator. Marianna supports Batten disease study recruitment, research coordination, and patient-centered research activities.
Research Coordinator. Marianna supports Batten disease study recruitment, research coordination, and patient-centered research activities.
Naomi Taggart, MA
Research Coordinator. Naomi assists with Batten disease research coordination, participant engagement, and study operations.
Research Coordinator. Naomi assists with Batten disease research coordination, participant engagement, and study operations.
Erika F. Augustine, MD, PhD
Adjunct Professor of Neurology and Pediatrics. Dr. Augustine leads research focused on clinical outcome measures and telemedicine applications in Batten disease, including studies involving the UBDRS.
Adjunct Professor of Neurology and Pediatrics. Dr. Augustine leads research focused on clinical outcome measures and telemedicine applications in Batten disease, including studies involving the UBDRS.
Clinical Collaborators
Alex Levin, MD, MHSc
Chief of Pediatric Ophthalmology and Ocular Genetics. Dr. Levin is internationally recognized for expertise in ocular genetics and pediatric eye disease.
Chief of Pediatric Ophthalmology and Ocular Genetics. Dr. Levin is internationally recognized for expertise in ocular genetics and pediatric eye disease.
Paul Vermilion, MD, MHSc
Associate Professor of Pediatrics, Neurology, and Medicine. Dr. Vermilion specializes in pediatric neuropalliative care and person-centered approaches to chronic neurologic disease.
Associate Professor of Pediatrics, Neurology, and Medicine. Dr. Vermilion specializes in pediatric neuropalliative care and person-centered approaches to chronic neurologic disease.
Research Collaborators
Emma Ciafaloni, MD
Professor of Neurology and Pediatrics. Dr. Ciafaloni specializes in pediatric neuromuscular disorders and contributes expertise in rare neurologic disease care.
Professor of Neurology and Pediatrics. Dr. Ciafaloni specializes in pediatric neuromuscular disorders and contributes expertise in rare neurologic disease care.
John J. Foxe, PhD
Director, Del Monte Institute for Neuroscience. Dr. Foxe’s laboratory utilizes neuroimaging and electrophysiological approaches to identify biomarkers and develop novel outcome measures relevant to Batten disease.
Director, Del Monte Institute for Neuroscience. Dr. Foxe’s laboratory utilizes neuroimaging and electrophysiological approaches to identify biomarkers and develop novel outcome measures relevant to Batten disease.
Bo Hoon Lee, MD
Assistant Professor of Neurology and Pediatrics. Dr. Lee’s interests include gene-based therapies for neurologic disorders and rare disease registries.
Assistant Professor of Neurology and Pediatrics. Dr. Lee’s interests include gene-based therapies for neurologic disorders and rare disease registries.
Samuel Mackenzie, MD, PhD
Physician-Scientist in Pediatric Neuromuscular Disorders. Dr. Mackenzie’s research focuses on novel gene-based therapies and translational approaches for rare neurologic conditions.
Physician-Scientist in Pediatric Neuromuscular Disorders. Dr. Mackenzie’s research focuses on novel gene-based therapies and translational approaches for rare neurologic conditions.
Ruchira Singh, PhD
Associate Professor of Ophthalmology and Biomedical Genetics. Dr. Singh studies mechanisms underlying vision loss in neurodegenerative disorders such as juvenile Batten disease.
Associate Professor of Ophthalmology and Biomedical Genetics. Dr. Singh studies mechanisms underlying vision loss in neurodegenerative disorders such as juvenile Batten disease.
Founding and Emeritus Leadership
Frederick Marshall, MD
Professor of Neurology. Dr. Marshall has collaborated with the University of Rochester Batten disease program since 2002 and is a recognized leader in neurodegenerative disorders.
Professor of Neurology. Dr. Marshall has collaborated with the University of Rochester Batten disease program since 2002 and is a recognized leader in neurodegenerative disorders.
Jonathan Mink, MD, PhD
Frederick A. Horner Distinguished Professor in Pediatric Neurology. Dr. Mink’s research has focused on pediatric movement disorders, Batten disease, and basal ganglia physiology. He has served as a major mentor and leader in pediatric neurology.
Frederick A. Horner Distinguished Professor in Pediatric Neurology. Dr. Mink’s research has focused on pediatric movement disorders, Batten disease, and basal ganglia physiology. He has served as a major mentor and leader in pediatric neurology.
Students and Trainees
- Maya Khurana — Medical Student, University of Rochester School of Medicine & Dentistry. Research focus: non-central nervous system manifestations and symptom management in CLN3 disease.
- Jamison Seabury — PhD Student, Translational Biomedical Science Program. Research focus: genotype-phenotype relationships and disease progression in CLN3 disease.
- Sam Moran — Medical Student, University of Rochester School of Medicine & Dentistry. Research focus: relationships between disease severity, progression, and cognitive function in CLN3 disease.
- Michael Lyashenko — Medical Student, University of Rochester School of Medicine & Dentistry. Research focus: family experiences and decision-making related to Cerliponase Alfa (Brineura) treatment in CLN2 disease.