SCIENCE DIRECTOR & ADVISORY BOARD
GRIN2B FOUNDATION’S SCIENCE DIRECTOR
From August 2019 through December 2020, Dr. Samuel Kwon served as our inaugural Science Director. Dr. Kwon has since stepped down from this role in order to spend more time in his lab, focusing on his own GRIN2B research. We are very grateful for Dr. Kwon’s service to our organization. He is continuing to serve us as a member of our Medical Advisory Board.
We are currently searching for a new individual to serve as our Science Director. This is a part time, Contractor position. If you are interested, please contact liz.marfia-ash@grin2b.com for further details.
MEDICAL ADVISORY BOARD
The purpose of the GRIN2B Foundation Medical Advisory Board is to assist us in interpreting all current GRIN2B research and to answer specific, medical and scientific questions. The other primary objective will be to review future research proposals. GRIN2B Foundation is committed to supporting research into the GRIN2B gene through the awarding of research grants from charitable funds raised. We hope to be able to support many research projects in the future.
The Advisory Board consists of individuals with a wide variety of experience and expertise and were chosen very thoughtfully by our Board of Directors. As we develop relationships with additional medical and scientific professionals and rare disease stakeholders, we expect to add more members to our team.
Dr. Jennifer Bain
Jennifer Bain, MD, PhD, is an assistant professor of neurology at CUIMC, in the Division of Child Neurology. Dr. Bain completed her MD and PhD at Rutgers—New Jersey Medical School and studied developmental brain injury. She continued her training in general pediatrics at University Hospital in Newark, NJ and Hackensack University Medical Center, where her clinical research focused on studying autonomic dysfunction in children with autism spectrum disorders. Dr. Bain subsequently completed her child neurology residency at Columbia University Irving Medical Center, with research interests in the neurological outcomes of children undergoing extracorporeal membrane oxygenation (ECMO), as well as neurodevelopmental disorders such as autism. She is interested in genetic causes of neurodevelopmental disorders associated with global developmental delay, intellectual disability, cerebral palsy, autism and movement disorders. She sees both inpatient and outpatient pediatric neurology patients, and provides programs for neurodevelopmental disabilities, neurogenetic disorders as well as a follow-up clinic for ECMO survivors. She is the lead investigator on studying the natural history of neurodevelopmental disorders associated with RNA binding proteins and also works closely with the Simons Foundation Searchlight initiative.
Dr. Tim Benke
Dr. Benke completed his M.S. (Electrical Engineering, Rice University), Ph.D. (Neuroscience) and M.D. as part of the Medical Scientist Training Program at Baylor College of Medicine in Houston, TX. During his Ph.D and while a post-doctoral fellow training with Professor Graham Collingridge FRS at the MRC Centre for Synaptic Plasticity/University of Bristol, UK, Dr. Benke began to study the molecular mechanisms of synaptic plasticity, learning and memory. After completing his clinical training in Pediatrics and Pediatric Neurology at Texas Children’s Hospital, Dr. Benke was recruited to join the University of Colorado, School of Medicine and Children’s Hospital Colorado in 2002. Since then, his laboratory has studied the molecular mechanisms that are impacted by early-life seizures to cause intellectual disability and autism. He has received financial support from the NIH, Epilepsy Foundation, LouLou Foundation, RSRT, CURE, Department of Pediatrics and Children’s Hospital Research Institute and Foundation (Ponzio Family Chair). Dr. Benke is part of training grants and programs in Pharmacology, Neuroscience Program, Otolaryngology and Psychiatry to train graduate and post- graduate students and fellows in basic and translational research.
Dr. Benke has translated his molecular and genetic research interests surrounding epilepsy and development back to the bedside by initiating multi-disciplinary clinics involving specialists from the Section of Genetics and Metabolism. This has included the massively multi-disciplinary Rett Clinic, where Dr. Benke is the Medical Director. This clinic has been generously supported by the Rocky Mountain Rett Association and recognized and supported as an International CDKL5 Foundation Center of Excellence. The Rett Program is also part of the NIH-funded Natural History Study of Rett and Rett- related disorders.
Dr. Benke serves as Research Director in Neurology and the Neuroscience Institute, providing oversight and mentorship to 100+ clinical, quality and basic projects. He is past Chair of the Dean’s Research Advisory Committee in the School of Medicine. He is Team Leader for the Movement-Genetic-MS team in Neurology. He serves on the Promotions Committee in the Department of Pediatrics. In the past he has served as Residency Program Director and interim Section Chief for the Division of Pediatric Neurology. He has been an Associate Professor (Pediatrics, Neurology, Pharmacology and Otolaryngology) since 2008.
Dr. Nisha Hakhu
Dr. Nisha Hakhu is a board certified General Pediatrician at Advocate Children’s Park Ridge and medical director of the D207 School Based Health Center. Her clinical interests are care of medically complex children, adolescent mental health, global health and psychosocial determinants of health. She is a member of the teaching faculty for pediatric residents and works closely to educate them in outpatient pediatric curriculum, global health, advocacy and community health. Nisha received her Bachelor’s Degree from the University of Southern California and attended Michigan State University College of Osteopathic Medicine for medical school and Advocate Children’s Hospital Park Ridge for Pediatric Residency and Chief Residency. She lives with her husband and two daughters. Her older daughter, Talia, was diagnosed with GRIN2B in the spring of 2017.
Dr. Samuel Kwon
Samuel Kwon is an Assistant Professor in the Department of Molecular, Cellular and Developmental Biology at the University of Michigan. Within his lab, he studies mouse models with GRIN2B variants in order to understand how variations in Grin2B impact the neural circuit for motor function. Dr. Kwon graduated from Australian National University with a B.Sc. in 2004. He went on to study with Edwin Chapman at the University of Wisconsin-Madison, and received a Ph.D. in Physiology in 2011. He did his postdoctoral work with Daniel O’Connor at Johns Hopkins Medical School. The Kwon lab focuses on cellular, molecular and circuit mechanisms underlying the plasticity in mammalian brain using in vivo imaging, electrophysiology, opto/pharmacogenetics, and behavior.
Dr. Johannes Lemke
Dr. Johannes Lemke is Director of the Institute of Human Genetics and the Center for Rare Diseases as well as professor of Human Genetics at the University of Leipzig, Germany. His clinical and research focus is on the genetic background of epilepsy disorders, especially of epileptic encephalopathies. Dr. Lemke has published extensively on different aspects of GRIN-related disorders and aimed for a precise delineation of the associated phenotypes. For this purpose, Dr. Lemke and his team collected data on hundreds of published and unpublished individuals with GRIN-related disorders in a patient registry.
Dr. Scott Metrick
Dr. Scott Metrick is an emeritus clinical neurologist associated with Northwestern Medicine. His adult daughter, Sarah has GRIN2B. Since learning of her diagnosis in 2022, he has immersed himself in the study of GRI disorders, genetics and glutamate receptor basic science. Scott and his wife, Gail have spent decades advocating for individuals with neurodevelopmental disorders.
Devin Shuman, MSc
Devin Shuman (she/her) is a Genetic Counselor based outside of Seattle, WA. She received her MS in Genetic Counseling from the University of California Irvine and a BA in Psychology from Smith College. She has spent over a decade volunteering in rare disease genetic advocacy and is excited to join the GRIN2B team! She is passionate about empowering families to advocate for themselves through genetic knowledge. “Everyone has a right to know and understand the details of their child’s condition and I am dedicated to helping families achieve this.”
Dr. Stephen Traynelis
Dr. Stephen Traynelis is a Professor of Pharmacology at the Emory University School of Medicine in Atlanta, GA. He received his BS degree from West Virginia University in Chemistry (1984, summa cum laude) and his Ph.D. in Pharmacology from the University of North Carolina (1988). He completed postdoctoral fellowships at University College London and the Salk Institute. Dr. Traynelis has made numerous seminal discoveries about the fundamental properties of glutamate receptors, especially NMDA receptors. More recently, he has developed multiple first-in-class series of subtype-selective NMDA receptor ligands that possess therapeutic potential for the treatment of ischemic brain injury, schizophrenia, Parkinson’s Disease, epilepsy and other disorders. This led to the founding of NeurOp Inc and the development of neuroprotective agents, one of which is currently being evaluated in clinical trials. Dr. Traynelis’ current efforts to understand the functional consequences of genetic variation in glutamate receptor genes (GRIN, GRIA, GRIK) in healthy individuals and neurological patients has provided new insights into receptor function and genetic risk factors. These efforts led to the founding of a new center at Emory that is bridging the gap between genetic information on receptor variants and their functional and pharmacological consequences, laying the groundwork for precision medicine and the evaluation of novel treatment paradigms.