Charles Abrams, MD, PhD
University of Illinois, Chicago
Dr. 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.
Dr. Abrams’s 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.
Anthony Antonellis, PhD
University of Michigan
Dr. Antonellis is a leading researcher in the field of peripheral nerve development and disease, and Professor and Chair of the Department of Human Genetics at the University of Michigan. The primary focus of his laboratory is elucidating the molecular mechanisms and pathways underlying Charcot-Marie-Tooth disease. Among his accomplishments in this area is the discovery of numerous mutations in tRNA synthetases that underly several forms of CMT.
Dr. Antonellis earned his Bachelor of Science degree from the University of Massachusetts, then after stints working at Genzyme Genetics and the Harvard Medical School, he went on to earn his PhD from the George Washington University and NIH Joint Program in Genetics. Before joining the faculty of the University of Michigan, Dr. Antonellis also completed a postdoctoral fellowship with the NIH National Human Genome Research Institute.
Dr. Paul August
Chief Scientific Officer at ReviR Therapeutics
Paul is a scientific and business leader with extensive drug discovery experience across multiple therapeutic areas. His primary focus has been on genetically defined diseases where he has advanced therapies in benign hematology diseases and inborn errors of cellular metabolism. He has headed the Genetically Defined Disease Biology efforts at Agios Pharmaceuticals in Cambridge Massachusetts since March 2020. At Agios, Paul is focused on discovering and developing novel drugs to treat rare genetic disorders of metabolism by modulating key metabolic targets and pathways using small molecules and antisense approaches to advance transformative therapies to patients.
Paul was employed by Sanofi and its legacy companies for over 18 years until a divestiture of research activities to Icagen Pharmaceuticals took place in 2016. He is an advocate for CMT research and a CMTRF board member since 2018.
Elisabetta Babetto, PhD
University at Buffalo
Dr. Elisabetta Babetto is a Research Assistant Professor of Pharmacology and Toxicology at SUNY Buffalo, and a principal investigator in the Institute for Myelin and Glia Exploration and the Neuroscience Program of the University at Buffalo, NY. She studies the molecular and metabolic interactions of glia and axons after injury and in disease. Her work defined a novel instructive role of Schwann cells based on metabolic reprogramming to regulate the resistance of injured axons to degeneration. She brought Schwann cell metabolism to centerstage during axon degeneration and her laboratory continues to focus on the identification of axonal energetic demands and glia mechanisms of energy support after axotomy and in murine models of neurodegenerative conditions.
Dr. Babetto’s training in axon degeneration began when she was recruited by Dr. Michael Coleman in Cambridge, UK, where she graduated in 2010 with a PhD in Molecular Biology. Her graduate studies contributed to elucidating the mechanisms of action of the WldS protein, which confers a strong delay of axon degeneration after neuronal injury. She then joined the laboratory of Prof. Aaron DiAntonio at Washington University School of Medicine, St. Louis, MO, for postdoctoral training. During this time she discovered a novel pathway regulating axon survival, mediated by the E3 ubiquitin ligase Phr1, in mouse models of acute nerve injury. In 2014, she was recruited to the University at Buffalo, where she has established her laboratory and shifted her focus from an axon-centric view of degeneration to a comprehensive understanding of the cellular mechanisms during nerve damage.
Bruce Carter, PhD
Dr. 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 Dr. Carter 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
Executive Director, Global Program Team Leader, Sarepta Therapeutics
Dr. Haidet-Phillips leads cross-functional program teams at Sarepta to bring gene therapies from the laboratory to patients. Prior to Sarepta, Dr. Haidet-Phillips worked in pharma and biotech as part of AveXis and then Novartis Institute for BioMedical Research to help transition gene therapy products from the pre-clinical proof of concept stage in R&D to first-in human trials.
Prior to joining industry, Dr. Haidet-Phillips 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. Dr. Haidet-Phillips completed a post-doctoral fellowship at Johns Hopkins University seeking to understand the causes of ALS and develop new therapeutic approaches for the disease. She 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 IDSC
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
Dr. 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 Dr. Kennerson was introduced to CMT and she has continued to contribute to this field of research.
Dr. Kennerson 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).
Dr. Kennerson 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. Dr. Kennerson 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. 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.
Cat Lutz, PhD, MBA
The Jackson Laboratory
Cat Lutz, Ph.D., M.B.A. is the Vice President of the Rare Disease Translational Center at The Jackson Laboratory (JAX). With 25 years of experience in mouse genetics, Dr. Lutz has focused her research efforts on patient organizations and families diagnosed with rare diseases. The JAX Rare Disease Translational Center incorporates precision mouse models and broad-based drug efficacy testing to support IND enabling studies. She serves as the Principal Investigator of multiple NIH sponsored programs including the Center for Precision Genetics, The Somatic Cell Genome Editing Center, and Mouse Mutant Research and Resource Center. As a neuroscientist by training, Dr. Lutz has worked on models of the central nervous system such as Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis and Friedreich’s Ataxia. Dr. Lutz was recently awarded a 2021 Rare Impact Award by the National Organization for Rare Disorders.
Brett McCray, MD, PhD
Johns Hopkins University
Dr. McCray is an Assistant Professor in Neurology at Johns Hopkins. He is a physician-scientist with a clinical and research focus on Charcot-Marie-Tooth (CMT) disease and other forms of peripheral neuropathy. He currently serves as the co-director of the Johns Hopkins CMT clinic and the Johns Hopkins site principal investigator for the Inherited Neuropathy Consortium genetics and natural history CMT study. In addition to caring for patients with CMT and other neuromuscular diseases, he also runs a basic science lab focused on the pathogenesis of inherited forms of peripheral neuropathy with the goal of identifying common pathogenic mechanisms and novel broadly applicable therapeutic targets. His current work is focused on understanding the pathogenesis of CMT type 2C, which is caused by mutations in the calcium-permeable cation channel TRPV4 (transient receptor potential vanilloid 4). He studies animal models of this disease, and he has also established a TRPV4 neuropathy patient registry to better define the natural history of the condition and to work towards a future clinical trial.
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, Dr. Monk 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. Dr. 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.
Dr. Monk 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
Alexander Rossor, MD, PhD
UCL Queen Square Institute of Neurology
Dr. 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.
Dr. Rossor 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.
Sindhu Ramchandren, MD, MS
PRA Health Sciences
Dr. Ramchandren is a board-certified neurologist who completed her medical degree at the University of Texas-Houston, her neurology residency at the University of Pennsylvania, and a clinical neurophysiology-EMG fellowship at Johns Hopkins University. She also holds a Master of Science in clinical research design and statistical analysis from 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 that, Dr. Ramchandren was the Medical Director of the Muscular Dystrophy Association Care Center and the CMT Center of Excellence at the University of Michigan, and a 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.