Scientific Advisory Board

Dr. Stephen Traynelis is Director of the Center for Functional Evaluation of Rare Variants and professor of Pharmacology at Emory University. His lab uses electrophysiology techniques to determine how variants in GRIN genes affect the function of NMDA receptors. In this capacity, Dr. Traynelis and his team have worked with dozens of families and their clinicians to help them understand how their child’s mutation affects brain function. Dr. Traynelis has published extensively on the NMDA receptor and the impact of variants on different GRIN genes. His lab is also involved in research to evaluate small molecule therapies to help patients with GRIN disorders, and in research about how variants in GRIN genes impact other human diseases. In addition, Dr. Traynelis is hosting the first academic conference for researchers for all GRIN genes in September.

Dr. Stephen Traynelis, PhD

Dr Timothy Benke is a pediatric neurologist at the Children’s Hospital of Colorado and a professor of pediatrics, neurology and pharmacology at the University of Colorado. In addition to seeing several patients with GRIN disorders, he is leading the efforts in partnership with Dr. Traynelis to develop a registry with a symptomatic questionnaire of GRIN patient families that could form the basis for a broader natural history study. The goal is to correlate function from Dr. Traynelis’ lab with phenotypic data collected by Dr. Benke to inform personalized medicine approaches. Dr. Benke has extensive clinical experience and publication record regarding the phenotypic characterization of rare neurogenetic disorders. He has experience creating and collaborating with large groups of clinicians and scientists to characterize and treat rare neurogenetic disorders. He created the Rett Center of Excellence for Rett and CDKL5 syndromes at Children’s Hospital Colorado. He is well-versed in clinical research and directs research in the Neurosciences Institute at Children’s Hospital Colorado.

Dr. Timothy Benke, MD, PhD

Dr. Ramsey is an Associate Professor in the Department of Pharmacology and Toxicology at the University of Toronto. She developed a mouse model with a genetic deficiency of NMDA receptors caused by a mutation in Grin1. Since the creation of the mice in 1999, Dr. Ramsey has studied the physiological and behavioural consequences of Grin1 loss-of-function. She began working with GRIN families in 2018 to discover treatments for patients using mice that carry disease-causing mutations in Grin1.

Dr. Amy Ramsey, PhD
Dr. Graham L. Collingridge, FRS, FMedSci, FSB, FBPhS

Graham Collingridge is the Director of the Tanz Centre for Research in Neurodegenerative Diseases (CRND) at the University of Toronto, Canada. He is also a Senior Investigator at the Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital in Toronto, Canada. He also holds an appointment at the University of Bristol, UK (since 1994) as the Professor of Neuroscience in Anatomy in the School of Physiology, Pharmacology and Neuroscience.

 

He has served as Departmental Chairs of Pharmacology at the University of Birmingham, UK (1990-1994) and of Anatomy at the University of Bristol (1997-1999). He was also the Director of the MRC Centre for Synaptic Plasticity at the University of Bristol (1999-2012). He has served as Editor-in-Chief of Neuropharmacology (1993-2010) and as the President of the British Neuroscience Association (2007-2009).

He is currently a member of the Scientific Advisory Board of Hello Bio. His research focuses on the mechanisms of synaptic plasticity in health and disease, in particular, understanding synaptic plasticity in molecular terms and how pathological alterations in these processes may contribute to major disorders, such as Autism, Neurodegenerative Disorders, Depression and Chronic Pain.

Dr. Xavier Altafaj, PhD

Xavier Altafaj is a Principal Investigator at the University of Barcelona in the Neuropharmacology and Pain Research Group. Xavier holds a PhD in Genetics from the Centre of Medical and Molecular Genetics (Dr. Estivill research programme), and a degree in Molecular Biology from the University of Barcelona. After the obtention of the PhD degree, Xavier joined the "Calcium channels and pathologies" laboratory (Dr. De Waard; INSERM, Grenoble) and the "Gene Therapy" laboratory (C. Fillat laboratory) at the Center for Genomic Research (CRG, Barcelona, Spain) for postdoctoral research.

 

Since 2011, Xavier is leading his research group, focused on the study of he physiology and pathophysiology of NMDA-type ionotropic glutamate receptors (iGluRs). His research aims to contribute to unveil the molecular and cellular mechanisms bridging the gap between glutamate receptor dysfunctions and neurological diseases, that will lead to the development of targeted therapeutic approaches.  Xavier’s work helps to explain the molecular mechanisms underlying synaptic plasticity processes in post-synaptic glutamatergic neurons. Further, the molecular insights are used to design targeted therapeutic approaches and to evaluate their efficacy to attenuate iGluR-mediated neuronal dysfunctions. Currently, the effort of his team and his basic and clinical collaborators is focused in GRIN-related disorders: from functional annotation of GRIN variants to personalised therapies.

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. Johannes Lemke, MD
Dr. Ronald Cohn, MD, FACMG

Dr. Ronald Cohn has served as President and CEO of the Hospital for Sick Children (SickKids) in Toronto, Canada since May 1st, 2019. Dr. Cohn joined SickKids in September 2012 as the Chief of the Division of Clinical and Metabolic Genetics, Co-Director of the Centre for Genetic Medicine, and Senior Scientist at the SickKids Research Institute. He became the Inaugural Women’s Auxiliary Chair in Clinical and Metabolic Genetics in April of 2013, and joined the department of Molecular Genetics at the University of Toronto. In 2016 he was appointed to the position of Chief of Paediatrics at SickKids, and Chair of Paediatrics at The University of Toronto.

 

Dr. Cohn received his medical degree from the University of Essen, Germany. After his postdoctoral fellowship at the Howard Hughes Medical Institute in the laboratory of Dr. Kevin Campbell, he moved to Baltimore where he was the first combined resident in paediatrics and genetics at the Johns Hopkins University. He subsequently joined the faculty of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins where he became the director of the worlds' first multidisciplinary centre for Hypotonia, which has earned national and international recognition. Dr. Cohn was also the director of the medical genetics residency program at Johns Hopkins. He has received numerous awards including the David M. Kamsler Award for outstanding compassionate and expert care of pediatric patients in 2004; First Annual Harvard-Partners Center for Genetics and Genomics Award in Medical in 2006; and the NIH Young Innovator Award in 2008.

 

Over the last few years, Dr. Cohn has developed an interest in applying a concept of Precision Child Health to the care of children. His own research focusses on implementing genome editing technologies for the treatment of neurogenetic disorders.

Dr. Roche is a Senior Investigator in the Intramural Research Program at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH) in Bethesda, Maryland. Over the last two decades, Dr. Roche has studied the molecular mechanisms that underlie synaptic plasticity at excitatory synapses. She has studied glutamate receptors and other postsynaptic proteins and mechanisms that dictate their expression at synapses. More recently, her research program has focused on using human genetics to better understand the synaptic dysfunction underlying neurodevelopmental disorders. In particular, the Roche lab investigates rare variants in NMDA receptors (GRINs), the neuroligin family of adhesion molecules (NLGNs), and postsynaptic scaffolding proteins (MAGUKs; SHANKs; TRIO). Using molecular and biochemical approaches, her lab characterizes mechanistic dysfunction and generates related mouse models to study in an in vivo context.

Dr. Katherine Roche, PH.D

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