Charles Abrams, MD, PhD
University of Illinois, Chicago
Charles Abrams is a physician-scientist at the University of Illinois Medical School in Chicago where he is head of the Neuromuscular Division. He received his master’s and doctoral degrees from Albert Einstein College of Medicine and trained in neurology at Cornell Medical Center and in neuromuscular medicine at Johns Hopkins University. His laboratory focuses on elucidating the mechanisms of the X-linked form of Charcot-Marie-Tooth disease and other related disorders. His work has been funded by the NIH, CMT Association and Muscular Dystrophy Association.
Bruce Carter, PhD
Bruce Carter is Professor of Biochemistry and Associate Director of the Brain Institute at Vanderbilt University. After completing his bachelor’s degree at Alma College, he obtained his PhD in Biological Chemistry from the University of Michigan. He did postdoctoral training with Yves Barde at the Max Plank Institute in Munich, Germany and with Moses Chao at Cornell Medical School.
In 1997 he joined the Department of Biochemistry at Vanderbilt University School of Medicine. His research focuses on the mechanisms by which neurotrophins regulate cell death in the developing peripheral nervous system as well as the mechanisms underlying Schwann cell development and dysregulation, including in models of CMT.
Jesse M. Cedarbaum, MD
Coeruleus Clinical Sciences LLC
Dr. Cedarbaum obtained his medical degree from Yale Medical School, where he is currently Professor (Adjunct) of Neurology. After residency at New York Hospital-Cornell Medical Center Dr. Cedarbaum joined the Cornell faculty and led the Parkinson and Movement Disorders program at Burke Rehabilitation Center and the New York Hospital, from 1983-1990. Dr. Cedarbaum then joined Regeneron, where he led the establishment of the clinical development function and served as Program Director and later Vice President of Clinical Affairs from 1990-2007. He subsequently held positions at Elan, Cytokinetics, and Bristol-Myers Squib and most recently as Sr. Distinguished Investigator at Biogen, leading a team focused on development of novel therapeutics for Parkinson’s disease and Movement Disorders. Dr. Cedarbaum has authored or co-authored over 100 peer-reviewed scientific publications, most in the area of neurotherapeutics. He is a Fellow of both the American Academy of Neurology and the American Neurological Association.
Amanda Haidet-Phillips, PhD
Director, Translational Medicine, Novartis Gene Therapies
Amanda Haidet-Phillips serves as part of Novartis Gene Therapies team to help transition gene therapy products from the pre-clinical proof of concept stage in R&D to first-in human trials. This includes ensuring trial readiness, capturing stakeholder engagement, and facilitating the design and IND approval for potentially label-enabling trials. Prior to Novartis Gene Therapies, Amanda served as Scientific Portfolio Director for the Muscular Dystrophy Association where she led the strategic management of research grants and investments focused on Charcot-Marie-Tooth Disease, Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy, and Myasthenia Gravis. Amanda completed a post-doctoral fellowship at Johns Hopkins University seeking to understand the causes of ALS and develop new therapeutic approaches for the disease. Amanda received her Ph.D from The Ohio State University where she helped to develop gene therapies for neuromuscular disease.
James Hendrix, PhD
Chief Scientific Officer, LuMind Research Down Syndrome Foundation
As the Chief Scientific Officer, Dr. Hendrix directs scientific initiatives for LuMind IDSC. A critical element of his role is to establish the nationwide Down Syndrome – Clinical Trial Network (DS-CTN) and to oversee the first clinical trial in the DS-CTN, the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study. The LIFE-DSR study is a natural history study focused on adults 25 years of age and older at high risk for Alzheimer’s disease. Dr. Hendrix is also focused on building potential collaborations with industry, academic and government scientists focused on Down syndrome research to maximize LuMind IDSC’s scientific impact.
Prior to joining LuMind, Dr. Hendrix was Director of Global Science Initiatives, at the Alzheimer’s Association. A critical element of his role was the management of industry consortia such as the Alzheimer’s Association Research Roundtable (AARR); lead the Global Biomarker Standardization Consortium; and assist with the coordination of the $100 million dollar Imaging Dementia—Evidence for Amyloid Scanning (IDEAS) Study on the clinical usefulness of amyloid PET imaging.
Before joining the Alzheimer’s Association, Dr. Hendrix worked as a medicinal chemist with a focus on drug discovery for CNS diseases. Dr. Hendrix spent 18 years working at Sanofi-Aventis and predecessor companies, where he rose to level of senior director, U.S. site head for CNS research. He also spent two years working in the biotech industry with various companies, including companies focused on the treatment of Alzheimer’s disease.
Dr. Hendrix received his Ph.D. and a postdoctoral fellowship in organic chemistry from Colorado State University.
Marina Kennerson, PhD
ANZAC Research Institute and Sydney Medical School
Marina Kennerson is a Professor of Neurogenetics with the ANZAC Research Institute and Sydney Medical School, University of Sydney, Australia. She received her Bachelor of Science (Hons) degree from University of New South Wales and PhD from the University of Sydney. Her scientific training included mapping genes for inherited neurodegenerative diseases and using genomic technologies to identify gene mutations. It is through her training that Marina was introduced to CMT and she has continued to contribute to this field of research.
Marina heads the Gene Discovery and Translational Genomics Inherited Peripheral Neuropathies Program at the ANZAC Research Institute. Her team has discovered several neuropathy genes and is doing pioneering research to discover the role of structural variation mutations causing gene dysregulation as a new disease mechanism for hereditary neuropathies. Her research program includes functional studies for recent gene (ATP7A and PDK3) and SV mutation (CMTX3 and DHMN1) discoveries using induced pluripotent stem cell derived motor neurons and animal models (C. elegans and mouse). Marina enjoys teaching and has run international linkage, bioinformatics and next generation sequencing courses at Sultan Qaboo University, Oman, Cold Spring Harbor Laboratories, USA and the University of Malaya, Malaysia and is the Genetics Unit of Study Co-ordinator for the Masters Postgraduate Program at the Brain and Mind Centre, Sydney. Marina is the Scientific Secretariat of the Asian Oceanic Inherited Neuropathy Consortium (AOINC) and a member of the International Charcot-Marie-Tooth and Related Neuropathies Consortium (CMTR) Board.
Gabsang Lee, DVM, PhD
Johns Hopkins University
Dr. Gabsang Lee obtained his bachelor’s, doctoral and doctor of veterinary medicine degrees in Veterinary Medicine at the Seoul National University, South Korea. After his post-doctoral training at Sloan Kettering Institute, New York, he joined the faculty of Johns Hopkins as Assistant Professor in the Department of Neurology and Institute for Cell Engineering (ICE), where he has been promoted to Associate Professor. Dr. Lee has a strong background in modelling human genetic disorders by using reprogramming technology, including induced pluripotent stem cells (iPSCs). He has dedicated his career to establishing a human iPSC-based model system to study peripheral nervous system disorders. The international scientific community recognizes and values Dr. Lee’s knowledge, as exemplified by the many awards he has received including the Robertson Investigator Award from the New York Stem Cell Foundation (one of the largest awards from private foundations), and his active participation in journal peer review activities and domestic/international research grant programs in the area of stem cell research, neurodegenerative diseases, and high throughput screening. He has been invited to speak at more than 50 conferences in the United States and international locations.
Thomas Lloyd, MD, PhD
Johns Hopkins University
Dr. Lloyd is a physician-scientist at Johns Hopkins University specializing in hereditary motor neuron diseases. He obtained his doctorate and medical degree in molecular and cellular biology at Baylor College of Medicine in Houston, Texas. He completed his neurology residency and neuromuscular fellowship at Johns Hopkins University School of Medicine. He was awarded the Passano Young Investigator award and S. Weir Mitchell Award through the American Academy of Neurology for excellence in neuroscience research during his training.
Dr. Lloyd has served as co-director of the Johns Hopkins CMT Center and site principle investigator of the Inherited Neuropathy Consortium since 2010. His laboratory at Johns Hopkins investigates the mechanisms of inherited motor neurodegenerative diseases including CMT and amyotrophic lateral sclerosis (ALS). Specifically, his laboratory has studied the cause of Hereditary Motor Neuropathy type 7B (DCTN1), CMT type 2C (TRPV4), and CMT type 4J. In 2012, he was awarded the Wolfe Neuropathy Research Prize from the American Neurological Association, which honors outstanding investigators who identify a new cause or treatment of axonal peripheral neuropathy.
Kelly Monk, PhD
Vollum Institute, Oregon Health and Sciences University
Dr. Monk is a senior scientist and co-director of the Vollum Institute. After earning her B.S. degree in Biochemistry from Elmira College in 2001, Kelly pursued doctoral studies at the University of Cincinnati/Cincinnati Children’s Hospital under the mentorship of Nancy Ratner and was awarded her Ph.D. in Cell Biology in 2006. She did postdoctoral training in the lab of William Talbot at Stanford University School of Medicine. In 2011, she was appointed as an assistant professor in the Department of Developmental Biology at Washington University School of Medicine in St. Louis, and was promoted to associate professor with tenure in 2016. Monk joined the Vollum Institute as co-director and full professor in 2017 and was named director of the Vollum/OHSU Neuroscience Graduate Program in 2018.
Kelly began her independent career in 2011 and has since gained recognition as a leader in the fields of glial cell biology and neuron-glial interactions. Her work on Gpr126 and other aGPCRs has helped to lay the foundation for the rapidly growing aGPCR field. She and her team have discovered new roles for aGPCRs in the developing nervous system, were the first to delineate aGPCR functions in the adult nervous system during homeostasis and injury, and defined new activation paradigms, ligands, and downstream signaling mechanisms for this previously completely enigmatic receptor class. Beyond aGPCRs, she has leveraged the power of zebrafish genetics coupled with synergistic approaches in mouse, and her group is now armed with ~30 mutants from new forward genetic screens that can address key outstanding questions in glial cell biology and neuroscience including: glial fate specification and heterogeneity; the cell biology of myelination; mechanisms of glial-neuron and glial-glial interactions; glial support of neurons; and the contribution of glia to circuits and behavior.
William Motley, MD, DPhil
Third Rock Ventures
Sindhu Ramchandren, MD, MS
PRA Health Sciences
Dr. Sindhu Ramchandren is a board-certified neurologist who completed her medical degree at the University of Texas-Houston, neurology residency at the University of Pennsylvania, clinical neurophysiology-EMG fellowship at Johns Hopkins University, and a master’s of science in clinical research design and statistical analysis at the University of Michigan. She joined PRA Health Sciences, a global Clinical Research Organization, in March 2018 as the Medical Director of Neurology- Medical Affairs and Therapeutic Expertise, to provide innovative solutions to move drug discovery forward and bring more therapies to the market for patients with rare neuromuscular disorders.
Before joining PRA, Dr. Ramchandren was the medical director of the funded Muscular Dystrophy Association Care Center and the CMT Center of Excellence at the University of Michigan, and an integral member of the Inherited Neuropathy Consortium. Her clinical research focused on patient-centered outcomes, including quality of life measures, for use in clinical trials in CMT and muscular dystrophies. Dr. Ramchandren’s clinical and research expertise in CMT and key relationships with the scientific community in CMT globally allow her to assist in CMTRF’s drug discovery mission and to serve as a bridge between investigators and industry, to ultimately benefit the individual CMT patient.
Alexander Rossor, MD, PhD
UCL Queen Square Institute of Neurology
Alex Rossor is an honorary consultant neurologist and Wellcome Trust Post-Doctoral Clinical Fellow at the UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, United Kingdom. He earned his doctor of medicine degree, graduating with distinction from the University of Newcastle upon Tyne, where he has was also awarded the Goyder Memorial Scholarship and Luke Armstrong Prize in pathology. He undertook specialist neurology training in London, completing a doctorate on Charcot-Marie-Tooth disease with Professor Mary Reilly at the UCL Queen Square Institute of Neurology.
Alex currently works as a clinician-scientist at the UCL Queen Square Institute of Neurology in the laboratory of Professor Giampietro Schiavo, researching the role of receptor trafficking in forms of hereditary motor neuropathy. He is also the hospital board representative for the European Reference Network for Rare Neuromuscular Diseases and is an associate editor of the Journal of the Peripheral Nerve Society.
Richard Shimkets, PhD
President & CEO, Abeome Corporation
Rick serves as the president and CEO of Abeome Corporation. Prior to joining Abeome, he served as vice president of drug discovery and vice president of scientific development for CuraGen Corporation. He developed and managed partnerships with Genentech, Biogen, Bayer and other biotechnology and pharmaceutical companies.
Charlotte Sumner, MD
Johns Hopkins University
Dr. Sumner is professor of neurology and Neuroscience at Johns Hopkins University School of Medicine. She received her bachelor’s degree from Princeton University and her doctor of medicine degree from the University of Pennsylvania School of Medicine. She completed internal medicine internship and neurology residency at the University of California San Francisco and neuromuscular fellowship at Johns Hopkins University School of Medicine. Her scientific training included a neurogenetics fellowship at the National Institute of Neurological Disorders and Stroke. Dr. Sumner cares for patients with inherited diseases of motor neurons and peripheral nerves, such as spinal muscular atrophy (SMA) and CMT and co-directs the Johns Hopkins CMT and SMA clinics.
Dr. Sumner’s research focuses on the genetic and cellular pathogenesis of SMAs, with particular attention to therapeutics development for these disorders utilizing cell and mouse models and human tissues. Her laboratory research has been funded by the National Institute of Neurological Disorders and Stroke, Muscular Dystrophy Association, Cure SMA, the Spinal Muscular Atrophy Foundation, Spinal Muscular Atrophy Research Team, Ujala Foundation, and the Howard Hughes Medical Institute. She is an associate editor of the Journal of Clinical Investigation and the lead editor on the recently published first comprehensive book on SMA pathogenesis and treatment development. She is an advisor to several companies developing treatments for SMA, as well as nonprofit foundations, and particularly enjoys teaching at all levels.
Carla Taveggia, PhD
San Raffaele Hospital, Milan
Dr. Taveggia is Group Leader and the Director of the Division of Neuroscience at San Raffaele Hospital in Milan, Italy. After graduating in Biology at the University of Milan, she obtained her Ph.D. in Molecular and Cellular Biology at the Open University London, UK. She then moved at the NYU Medical Center, New York, US and pursued her post-doctoral studies in the laboratory of Dr. Jim Salzer, where she investigated the role of the axonal molecules controlling myelination. Her studies demonstrated that Neuregulin1 type III is an essential instructive signal for PNS myelination as its axonal dosage regulates the amount of myelin produced. During these studies she was supported by a post-doctoral fellowship from the US National Multiple Sclerosis Society.
In 2007 she was awarded the “Rita Levi Montalcini” Transition Career Award from Federazione Italiana Sclerosi Multipla. She thus moved back to Italy in 2008, to establish her research group at the San Raffaele Scientific Institute in Milan, where she has been since then. Here she continued to study the mechanisms controlling neuronal glial communication and identified the secretase ADAM17 as a post-transcriptional regulator of Neuregulin1 cleavage and activity. More recently, her laboratory identified in Prostaglandin D2 synthase and its signaling mechanism a novel pathway regulating PNS myelin formation and maintenance.
Dr. Taveggia’s main scientific interests focuses in understanding the molecular basis controlling myelin formation and maintenance in the PNS, in both physiological and pathological conditions, the cell biology of myelination and deciphering glia support to neurons.