Scientific Advisory Board FOXG1 Research

Elli Brimble

MSc, MS, CGC, Lucile Packard Children’s Hospital at Stanford

Brimble serves as FOXG1 Research’s Scientific Advisory Board Liaison to facilitate communication with research communities. She is a genetic counselor in Child Neurology at Stanford Children’s Health, where she is working to develop a FOXG1 multidisciplinary clinic. Brimble completed her undergraduate training in genetics at Western University in Ontario, and Masters degrees in molecular genetics and genetic counseling at the University of Toronto and Boston University, respectively. Brimble’s primary clinical and research interests are to improve understanding of genetic mechanisms that contribute to epilepsy, and to develop protocols that ensure comprehensive and consistent evaluations for genetic epileptic encephalopathies.

Orrin Devinsky

MD, NYU Langone Medical Center, Professor, Department of Neurology, Department of Neurosurgery, Department of Psychiatry, Chief of Service, NYU Epilepsy Service

Dr. Orrin Devinsky is a leading neurologist and neurosurgeon at NYU Langone and professor of neurology, neurosurgery, and psychiatry at the New York University School of Medicine. His epilepsy research includes sudden unexpected death in epilepsy (SUDEP), cannabinoids, phenome-genome correlations, autism, neural markers and imaging, therapeutic electrical stimulation, quality-of-life, cognitive and behavioral issues, and surgical therapy. Devinsky received his medical degree from Harvard Medical School, founded Finding A Cure for Epilepsy and Seizures (FACES) and co-founded epilepsy.com. Devinsky was a lead neurologist in CBD clinical trials for the treatment of epilepsy.

Gordon Fishell

PhD, Broad Institute; Professor, Harvard Medical School

Dr Fishell received his PhD in neurobiology from the University of Toronto-Neurobiology Research Group, and works on the study of inhibitory interneurons in the brain and other deep, foundational brain sciences. Fishell recently joined the Broad Institute, where the CRISPR cut-and-paste gene editing method was discovered, and is Professor at Harvard Medical School. He was formerly a Julius Raynes Professor of Neuroscience and Associate Director of the NYU Neuroscience Institute. Fishell’s research interests are focused on the Molecular Genetics of Regional Patterning in the Mammalian Telencephalon, and Molecular Control of Neural Stem Cell Proliferation and Specification. He has published over 100 original papers, and five books.

Steven Gray

PhD, Molecular Biology, UNC  School of Medicine, Gray Lab, Assistant Professor, Department of Ophthalmology

Dr. Gray is a leading expert in gene therapy for brain related diseases. His research focuses on developing virus systems that can be implanted with the corrected genes of various genetic disorders and introduced to the nervous system to repair mutated genes. Gray has also begun preclinical animal model studies using these virus systems to treat neurological diseases, and is currently involved in the first human trial with AveXis Biotech to cure the MECP2 mutation (RETT’s Syndrome).

Mary Jones

MD, Katie’s RETT Clinic, UCSF Children’s Hospital and Research Center Oakland

Dr. Mary Jones spent 31 years as a pediatrician as part of the East Bay Pediatrics family in California. When one of her patient’s – Katie – was diagnosed with RETT Syndrome, she became dedicated to understanding the disease in order to provide the specialized care needed. She decided to leave general pediatric practice and establish Katie’s Clinic for Rett Syndrome at Children’s Hospital and Research Center Oakland. Katie’s Clinic offers both clinical and emotional support for individuals with Rett Syndrome and their families. Dr Jones’ Katie’s Clinic is part of the NIH funded Natural History Study for RETT, CDLK5 and FOXG1. She is zealously working to extend clinics such as hers and create greater focus on the study of rare diseases.

Neil Kumar

PhD, CEO, BridgeBio

Dr Kumar is CEO of biotech company BridgeBio, focused on the development of new therapies for rare genetic disorders. Previously, he was a principal at Third Rock Ventures, where he supported and managed various biotech portfolio companies, in addition to focusing on new company formation and due diligence. He also held the role of Vice President, Business Development and Operations for MyoKardia. Kumar is the author of several peer-reviewed papers in the fields of oncology and systems biology. He holds BS and MS degrees in chemical engineering from Stanford University, and his PhD in chemical engineering from the Massachusetts Institute of Technology.

Xilma Ortiz-Gonzalez

MD, PhD, Pediatric Neurologist, CHOP, Neurology Instructor, University of Pennsylvania
Dr. Ortiz-Gonzalez is a pediatric neurologist at Children’s Hospital of Philadelphia (CHOP) where she sees patients with FOXG1 Syndrome as well as those with numerous other genetic mutations.
Ortiz-Gonzalez’s research focus is on mitochondrial disorders often present in childhood with systemic disease, including cardiac, skeletal muscle, visual and neurologic symptoms. She is interested in using iPSC technology to generate in vitro disease models to understand cardiac and neural phenotypes from patients affected with mitochondrial diseases and has published numerous articles on the topic.

Kiran Reddy

MD, President & CEO, Praxis Precision Medicines

Dr. Reddy is President & CEO of Praxis Precision Medicines, a Cambridge, Massachusetts based biotechnology company operating in stealth mode. Formerly, he was a Venture Partner at Clarus where he focused on new company formation and at Biogen as part of the Corporate Strategy leadership team. Reddy was part of the founding team and interim Chief Business Officer for SAGE Therapeutics through its IPO, and co-inventor of SAGE-547 the Phase 3 program for the rare epilepsy disorder refractory status epilepticus. He was part of the team that launched Foundation Medicine, and he has served as a Board Observer for Alnara pharmaceuticals, Rhythm pharmaceuticals, and PanOptica pharmaceuticals. Reddy holds MD & MBA degrees from Georgetown University, and is a board certified neurologist; he has authored several peer-reviewed scientific papers in the field of neuroimmunology and neurodegenerative diseases.

Ingrid Scheffer

PhD, Pediatric Neurologist, Physician Scientist, University of Melbourne & Florey Institute

Dr. Scheffer is Chair of Paediatric Neurology Research at The University of Melbourne and Senior Principal Research Fellow at the Florey Institute of Neuroscience and Mental Health. Professor Scheffer is a founding fellow of the Australian Academy of Health and Medical Sciences and currently its Vice-President. Scheffer is credited with finding the first gene implicated in epilepsy. She has also described and classified novel epileptic syndromes such as Epilepsy limited to Females with Mental Retardation. Scheffer has worked to characterise new epilepsy syndromes, from infancy to adulthood, which have permitted appropriate treatment and diagnosis, such as Dravet Syndrome.  She has considerably expanded our understanding of the spectrum of epilepsies associated with glucose transporter deficiency; this body of work carries major treatment implications as this disorder responds to the ketogenic diet.