Maria Escolar, MS, M.D.

Maria Escolar, MD, MS is Director, Program for the Study of Neurodevelopment in Rare Disorders (NDRD) and Associate Professor, Pediatrics, University of Pittsburgh School of Medicine. The NDRD was established in 2002 because of the need of help children and their families understand the overall impact of rare neurological diseases in child development. Dr. Escolar is a graduate of the Escuela Colombiana de Medicina. She has a master’s of science in human nutrition from Columbia University and completed a residency in general pediatrics and fellowship in child development and behavior at Cornell University Medical Center in 1995. Dr. Escolar is board-certified in neurodevelopmental disabilities. She has 15 years of experience as a practicing clinician and researcher. Dr. Escolar has authored multiple original manuscripts, including two New England Journal of Medicine articles. She is nationally and internationally known for her work in neurodevelopment of children with leukodystrophies and mucopolysaccharidosis. Her research focuses on behavioral and neuroimaging outcome measurements.

Steven Gray, Ph.D.

Steven Gray, PhD is an Associate Professor in the Department of Pediatrics at the University of Texas Southwestern (UTSW). Dr. Gray earned his PhD in molecular biology from Vanderbilt University in 2006, after earning a BS from Auburn University. He performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at UNC-Chapel Hill. Dr. Gray is the director of the UTSW Viral Vector Facility and maintains affiliations with the Department of Molecular Biology, the Department of Neurology and Neurotherapeutics, the Eugene McDermott Center for Human Growth and Development, and the Hamon Center for Regenerative Science and Medicine at UTSW.

Dr. Gray's core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system. As AAV-based platform gene transfer technologies have been developed to achieve global, efficient, and in some cases cell-type specific CNS gene delivery, his research focus has also included preclinical studies to apply these reagents toward the development of treatments for neurological diseases. Currently these include preclinical studies for Rett Syndrome, Giant Axonal Neuropathy (GAN), Tay-Sachs, Sandhoff, Krabbe, AGU, Charcot-Marie-Tooth, Batten, and Austin diseases, and have expanded into human clinical studies to test a gene therapy approach for GAN.

Erika Augustine, M.D.

Erika F. Augustine, MD is a Senior Instructor of Neurology and Pediatrics at the University of Rochester Medical Center. She completed undergraduate studies at Harvard College and received her M.D. degree from the University of Rochester. Dr. Augustine completed Pediatrics and Child Neurology residency training at Children’s Hospital Boston in 2008, followed by fellowship training in Pediatric Movement Disorders and Experimental Therapeutics in 2010 at the University of Rochester. Dr. Augustine’s research interests include methodology of clinical research and experimental therapeutics in rare pediatric neurological disorders. Current work focuses on therapeutics in Juvenile Neuronal Ceroid Lipofuscinosis and on the epidemiology of Tourette Syndrome in minorities. She currently serves as Assistant Program Director for the NINDS-funded Experimental Therapeutics training program at the University of Rochester. She is also a member of the NIH Taskforce on Childhood Motor Disorders and is a consultant to the FDA Neurological Devices Panel.

Jonathan Mink, M.D., Ph.D.

Jonathan Mink, MD, PhD, is a Pediatric Neurologist who specializes in movement disorders starting in childhood. He was attracted to pediatric neurology when he was a medical student and realized that he had an intellectual interest in the brain but enjoyed the challenges and rewards of caring for children. As a movement disorders specialist, he cares for children with a variety of conditions that impair voluntary movements, cause involuntary movements, or both. Such conditions include dystonia, chorea, tics, myoclonus, tremor, stereotypies, parkinsonism, and combinations of these such as may occur in conditions like cerebral palsy. In addition to movement disorders, neurodegenerative diseases are also a focus of his clinical practice.

His research has been focused on understanding brain mechanisms involved in the control of movement or where disorders cause involuntary movements. The research involves neurophysiology, direct measurement of movement abnormalities, rating scales, and longitudinal assessments over the course of development and disease. More recently, his work is included clinical trials and studies of factors that impact the function of children with movement disorders. In addition to his clinical practice and research, he directs the Child Neurology residency at the University of Rochester. Dr. Mink serves on a number of advisory boards including the Tourette Syndrome Association, the Dystonia Medical Research Foundation, the Batten Disease Support and Research Association, the NINDS Board of Scientific Counselors, and the Pediatric Advisory Committee of the FDA. He is also an Associate Editor of Neurology.

John Cooper, Ph.D.

Updating bio coming soon.