Professional Advisory Board
Dimitrios Arkilo, MD
Medical Director, Clinical Development at Sage Therapeutics, Inc., Cambridge, MA
Agotino Battaglia, MD, DPed, DNeurol
The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry
Calambrone (Pisa), Italy
Stormy Chamberlain, PhD
University of Connecticut Health Center, Farmington, CT
Dr. Stormy Chamberlain is an award-winning Assistant Professor of Genetics and Genome Sciences as well as the Associate Director of the Graduate Program in Genetics and Developmental Biology at the University of Connecticut. Her research focuses on angelman syndrome, dup15q syndrome, genetics, and genome sciences.
Edwin H. Cook, Jr., MD
Department of Psychiatry
University of Illinois at Chicago, Chicago, IL
Orrin Devinsky, MD
Orrin Devinsky is Professor of Neurology, Neurosurgery, and Psychiatry at the NYU School of Medicine. He received his B.S. and M.S. from Yale University, M.D. from Harvard Medical School and interned at Boston’s Beth Israel Hospital. He completed neurology training at the New York Hospital-Cornell Medical Center and his epilepsy fellowship at the NIH.
His epilepsy research includes cannabidiol, SUDEP, phenome-genome correlations, ataluren, healthful behavioral changes, autism, therapeutic electrical stimulation, quality-of-life, cognitive and behavioral issues, and surgical therapy. He is the Principal Investigator for the North American SUDEP Registry and for the SUDC Registry and Research Collaborative. He founded Finding A Cure for Epilepsy and Seizures (FACES) and co-founded the Epilepsy Therapy Project and epilepsy.com.
His interests in DUP15 result evolved from caring for children and young adults with this disorder. He remains committed to helping bridge the gap between basic and clinical science. Outside interests include behavioral neurology, evolutionary biology and history of neuroscience.
Scott Dindot, PhD
Department of Veterinary Pathobiology, College of Veterinary Medicine & Cellular Medicine
Department of Molecular and Cellular Medicine, College of Medicine
Texas A&M University, College Station, TX
Brenda Finucane, MS, LGC
Brenda Finucane, MS, LGC, is a licensed genetic counselor and the Associate Director of the Autism and Developmental Medicine Institute of Geisinger Health System in Lewisburg, PA. Her clinical and research activities have focused on genetic causes of neurodevelopmental disorders, including dup15q syndrome. Ms. Finucane is widely published and has been in leadership roles in professional and advocacy organizations throughout her career, including a term as president of the National Society of Genetic Counselors in 2012. Ms. Finucane was also the co-founder of IDEAS (IsoDicentric Exchange, Advocacy, and Support) which subsequently became the Dup15q Alliance.
Shafali Spurling Jeste, MD
Dr. Jeste is a behavioral child neurologist specializing in autism and related neurodevelopmental disorders. She is an Associate Professor in Psychiatry and Neurology in the UCLA David Geffen School of Medicine, and a lead investigator within UCLA Center for Autism Research and Treatment (CART). Dr. Jeste’s research is focused on the use of novel electrophysiological biomarkers to better define early predictors of autism and to define more homogeneous, brain-based subgroups within the autism spectrum in order to inform treatment targets. Within this framework, she has been investigating and treating infants and children with neurogenetic syndromes associated with autism. As the lead investigator on a large study of development in infants with Tuberous Sclerosis Complex (TSC), Dr. Jeste has designed innovative studies in early predictors of autism to focus on the integration of biomarkers with behavior to define atypical development prior to the onset of clinical symptoms of autism. In the last two years she has begun to study and treat children with Dup15q syndrome, and last year she established a Dup15q clinic at UCLA, through which she has already evaluated and/or treated more than 20 children.
Janine M. LaSalle, PhD
Medical Microbiology and Immunology
UC Davis School of Medicine, Davis, CA
N. Carolyn Schanen, MD, PhD
Carolyn Schanen, MD, PhD is a physician scientist who was introduced to Dup15q syndrome during her fellowship training in Medical Genetics. Just after joining the faculty at UCLA in 1996, a child with idic15 was assigned to her clinic (by chance), which set into motion a 17 year long research and clinical career on Dup15 syndrome. Her earliest ventures could never have gotten off the ground without IDEAS (now the Alliance) and the commitment of the parents and families. As a clinical geneticist, her interests have focused on understanding how the duplications affect outcome for individuals with duplications. She has always been motivated by “her kids” and the goal of finding strategies through research or clinical approaches to reduce the impact that the syndrome has on the quality of their lives. In 2013, she moved to SC and is currently not actively involved in research or patient care but brings expertise in molecular and clinical genetics to the PAB. She enjoys her dogs and endlessly repairing and painting her old house.
Sarah Spence, MD, PhD
Department of Neurology
Children’s Hospital Boston
Ron Thibert, DO, MSPH
Pediatric Epilepsy Program
Massachusetts General Hospital, Boston, MA