Speakers
Charles Abrams, MD, PhD
University of Illinois, Chicago
Dr. Charles Abrams is a physician-scientist at the University of Illinois Medical School in Chicago where he is head of the Neuromuscular Division. 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, CMTA, CMTRF, and the Muscular Dystrophy Association. Dr. Abrams earned 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.
Paul August, PhD
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.
Seema Basu, PhD
Mass General Brigham Innovation
As Strategic Innovation Leader at Mass General Brigham, Dr. Seema Basu is responsible for enabling strategic corporate alliances and new initiatives such as the Innovation Fellows Program for collaboration with industry. Additionally, her team manages licensing and partnering of IP portfolios from Regenerative Medicine, Ragon Institute of MGH, MIT, Harvard, and the MGH Center for Global Health. Dr. Basu has more than a decade of deep experience in industry-academic collaborations and business development and licensing at Mass General Brigham and Harvard, as well as a successful laboratory career at Parke-Davis and Albany Medical Center. She earned her BSc in Life Science at St. Xavier’s College and her PhD from the University of Notre Dame.
Robert Burgess, PhD
The Jackson Laboratory
Dr. Robert Burgess is a full Professor at The Jackson Laboratory where he seeks to understand the molecular mechanisms of synapse formation and maintenance at two sites in the nervous system: the peripheral neuromuscular junction and the retina. All these studies address basic molecular mechanisms with relevance to human neuromuscular and neurodevelopmental disorders. The lab is now heavily invested in developing and studying precision models of inherited peripheral neuropathies such as CMT. Dr. Burgess is on the scientific advisory boards of the Charcot-Marie-Tooth Association, the Hereditary Neuropathy Foundation, and the Talia Duff Foundation. He was the Chair of the NIH study section for Cellular and Molecular Biology of Neurodegeneration until 2020. Internally, he is the director for the cooperating PhD. program in Neuroscience with Tufts University. Dr. Burgess received his BS in Biochemistry from Michigan State University (1990) and his PhD in Neuroscience from Stanford University (1996). After a postdoctoral fellowship at Washington University, St. Louis, Dr. Burgess took a faculty position at The Jackson Laboratory in 2001.
Bruce Carter, PhD
Vanderbilt University
Dr. Bruce Carter is Professor of Biochemistry and Associate Director of the Brain Institute at Vanderbilt University. 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 models of CMT. After completing his bachelor’s degree at Alma College, Dr. Carter obtained his PhD in Biological Chemistry from the University of Michigan. He did postdoctoral training with Yves Barde at the Max Planck Institute in Munich, Germany, and with Moses Chao at Cornell Medical School. He is a member of the CMTRF’s Scientific Advisory Board.
Sylvain Celanire, PhD
Augustine Therapeutics
Dr. Sylvain Celanire has more than 20 years of experience as executive director, entrepreneur, and advisor in the biotech/ pharma sector. He has led multiple industry-academic partnerships within his tenure in several mid-sized biotech companies, as well as collaborated with governmental organizations, patient advocacy groups, and pharma companies to advance discovery programs for drug development stages and first-in-man clinical trials. He is co-inventor of 30+ patent applications, co-author of four book chapters, three review articles, and 15 full peer-review articles. Dr. Sylvain holds a PhD in Organic and Heterocyclic Chemistry from the University of Rouen (France) and completed his postdoctoral fellowships at the University of Orléans (France) and the University of Oxford (United Kingdom).
Anna Combes
CMT Research Foundation
Responsible for fundraising and development activities, including outreach to individual donors and institutions such as foundations, corporations and community funds, Anna Combes came to CMTRF from the Ochsner Cancer Institute (Ochsner Health), where she was Director of Development for nearly a decade.
At Ochsner, Anna closed six and seven figure gifts annually, totaling over $40 million; increased philanthropic activity for the cancer service line from $1 million to $3-5 million year over year. Before that, she held several positions of increasing responsibility and scope in Ochsner Corporate Relations and Special Events. Anna holds a BA in Communication from Salsibury (Maryland) University.
Meenu Chhabra Karson
Samsara Therapeutics
Ms. Chhabra Karson is a recognized biopharmaceutical leader with a successful track record of strategic leadership, transaction execution, and accelerating value-generating milestones. Since July 2023, she has served as the Executive Chairman of Samsara Therapeutics, a private preclinical-stage neurobiology company developing novel therapeutics for Charcot-Marie-Tooth disease through a partnership with CMT Research Foundation.
She previously served as President and CEO of Proteostasis Therapeutics (NASDAQ: PTI) where she led the company through a successful IPO and subsequent financings to advance the cystic fibrosis pipeline from discovery to successful completion of Phase 2 studies. Ms. Chhabra Karson was President and CEO at Allozyne, Inc. Prior to her time at Allozyne, she served as the Chief Business Officer at BioXell SpA, (SWX: BXL) a spin-off from Roche Pharmaceuticals where she led corporate development and financing activities. Ms. Chhabra Karson has also held roles of increasing responsibility at Novartis.
Currently, she serves on the board of Macrogenics (NASDAQ: MGNX) and Booster Therapeutics. Ms. Chhabra Karson obtained her M.B.A. from York University and her B.Sc. from the University of Toronto.
Rick T. Dobrowsky, PhD
University of Kansas
Over the last 14 years, Dr. Rick Dobrowsky’s lab has developed extensive expertise in animal and cell models of peripheral neuropathy and is recognized for pioneering the use of myelinated co-cultures of Schwann cells and sensory neurons as a model to examine the effect of hyperglycemic stress on neuregulin-induced demyelination. Dr. Dobrowsky was a psychology major initially interested in cognitive psychology, but a course in physiological psychology helped foster his longstanding interest in neurochemistry. He holds a BA in Psychology, an MS in Biochemistry, and a PhD in Pharmacology from North Carolina State University.
Kate Eichinger, PT, PhD, NCS
School of Medicine and Dentistry at
the University of Rochester
Dr. Kate Eichinger is involved in the clinical care of individuals with adult and pediatric neuromuscular conditions and is part of the neuromuscular research team involved in natural history studies and clinical trials involving patients with neuromuscular conditions. She is a lead evaluator for natural history studies in Charcot-Marie-Tooth disease and the lead physical therapist for other neuromuscular disease research networks. Her interests are in outcome measures, wearable devices/digital health technology, and health and wellness. After receiving her MS in physical therapy from Springfield College and her doctorate from Upstate Medical University, Dr. Eichinger earned her PhD in health practice research at the University of Rochester.
Douglas V. Faller, MD, PhD
Oryzon Genomics
Dr. Douglas Faller also serves as the Chair of Viracta’s Scientific Advisory Board. Previously, he served as the Interim Chief Medical Officer and Interim Chief Scientific Officer for Viracta and Exec. Medical Director at Takeda Pharmaceuticals. Dr. Faller is a Professor of Medicine at Boston University Medical Center, and previously served as the Director of the Cancer Center and held the Grunebaum Chair for Cancer Research. He has founded a number of biotechnology companies and holds or has held several senior management positions in biotech and global pharmaceutical companies. Dr. Faller received his MD from the Harvard University where he also served on the faculty of Brigham and Womens Hospital, Dana-Farber Cancer Institute, and Boston Childrens’ Hospital. He received his PhD from the Massachusetts Institute of Technology.
Douglas V. Faller, MD, PhD
check bio
Nicole Faulkner, PhD, FACMG
Invitae
Dr. Nicole Faulkner is a board-certified molecular geneticist with expertise and broad experience in reproductive health and cellular and tumor marker genetics. At Invitae, Dr. Faulkner oversees technical and clinical research and development support for genetic screening products, including Expanded Carrier screening, NIPS, PGT-A, Infertility, Proactive, and PGX panels. Over the course of her career, she has been passionate about building regulatory and quality infrastructure. After completing a postdoctorate in oncology, Dr. Faulkner spent 10 years as a Laboratory Director at Genzyme Genetics/Integrated Genetics. In 2012, she moved to Good Start Genetics and focused on reproductive health, carrier screening, and preimplantation genetics (PGT-A, PGT-SR). She was the Medical Director when GSG was acquired by Invitae in 2017. She completed her medical genetics training at Harvard Medical School in 2005 and received her PhD in molecular and cell biology at UMASS Medical School in 2001.
Toby Ferguson, MD, PhD
Biogen
Dr. Toby Ferguson is a neuromuscular neurologist and neuroscientist focused on developing treatments for neuromuscular disease such as ALS and SMA. As Head of the Neuromuscular Development Unit at Biogen, he leads the neuromuscular clinical development group that drives preclinical strategy within neurodegenerative and neuromuscular diseases. His group also works closely with the scientific, biomarker, and commercial teams at Biogen, Ionis, and other external collaborators to identify novel disease targets and develop the needed tools for efficient clinical development. At Biogen since 2013, Dr. Ferguson has advanced multiple programs in the clinic for ALS, SMA, myotonic dystrophy, and Parkinson’s disease. Prior to Biogen, he had a clinical neuromuscular neurology practice and a lab focused on peripheral axon injury and regeneration at Shriners Research Center and Temple University in Philadelphia. Dr. Ferguson trained in neurology and neuromuscular neurology at the University of Pennsylvania and earned an MD and PhD in Neuroscience from the University of Florida.
Kevin M. Flanigan, MD
Ohio State University
Certified in both Neurology and Neuromuscular Medicine, Dr. Kevin Flanigan is Director of the Center for Gene Therapy in the Research Institute at Nationwide Children’s and a leading expert in neuromuscular disorders. He also leads the Neuromuscular Disorders program at Nationwide Children’s, which provides coordinated care with pediatric experts from more than a dozen specialties. His primary research interest is in the genetic and molecular characterization of inherited neuromuscular diseases and the development of therapies for them. Dr. Flanigan holds a BM from the University of Illinois and earned his medical degree from Rush Medical College in Chicago. He completed his internship at the University of Michigan Health System before completing his Neurology residency and fellowship in Neuromuscular Disorders at Johns Hopkins Hospital, and an additional post-doctoral laboratory fellowship in Human Molecular Biology and Genetics at the University of Utah.
Carol Greve-Philips
Biotechnology Business Development
Carol Greve-Philips is a senior business development executive with wide experience across different types of transactions, therapeutic modalities, corporate organizations, and geographies. She has planned and executed licenses with academic institutions and private companies, developed partnerships and collaborations, and engaged in M&A as both a buyer and a seller. As a consultant to both Quad Technologies and Abfero Pharmaceuticals, she was the business development architect behind the sale of both companies to BioTechne and Pharmacosmos, respectively. Greve-Philips is a former senior executive in Corporate Development at Genzyme where she was responsible for the business development activities of the flagship Rare Disease business, licensing new products. She later joined Spark Therapeutics during its first three years as Head of Corporate Development and Strategy.
Matthew Hammond
RA Capital Management, L.P.
Matthew Hammond is a Principal on the Investment Team at RA Capital Management, working on both public and private investments. He also serves as a Board Director for Cerebral Therapeutics, DTx Pharma, Emergence Therapeutics, Forge Biologics, and Jnana Therapeutics. Hammond previously served as the CFO of Research Alliance Corp I before its merger with Point Biopharma and served on the boards of Research Alliance Corp I and Research Alliance Corp II. He holds a BS in Environmental Health Science from the University of Georgia, as well as a PhD in Biomedical Science and an MBA with a concentration in Finance from the University of Connecticut.
Sharon Hesterlee, PhD
Muscular Dystrophy Association
Dr. Sharon Hesterlee has over 20 years of experience in neuromuscular research in both the nonprofit and industry space. She has been involved in numerous efforts to remove barriers to therapy development for rare diseases and foster interactions between patient advocacy groups and industry. She previously served as head of research for Parent Project Muscular Dystrophy, the Myotonic Dystrophy Foundation, the Association for Frontotemporal Degeneration, and the Muscular Dystrophy Association’s MDA Venture Philanthropy. Dr. Hesterlee has also served as project lead for rare disease gene therapy programs at Pfizer, Inc; as Chief Executive Officer of Lion Therapeutics, a special purpose entity of Askbio, Inc.; and as Executive Vice President and Head of the Neuromuscular Division of Askbio Inc. She graduated from the University of Georgia with both a BS (cum laude) and BFA, and received her PhD in neuroscience from the University of Arizona.
James J. Hickman, PhD
Hesperos, Inc.
James J. Hickman was a founder and serves as Chief Scientist at Hesperos, Inc., a biotechnology CRO leveraging its patented, Human-on-a-Chip multi-organ platform to accelerate drug discovery by providing safety and efficacy testing for novel therapeutics. He is also the Founding Director of the NanoScience Technology Center and Professor of Nanoscience Technology and Electrical Engineering at the University of Central Florida. Previously, he was the Hunter Endowed Chair in the Bioengineering Department at Clemson University. For the past 30 years, he has been studying the interaction of biological species with modified surfaces, first in industry and later in academia. He has worked at NSF and DARPA in biological computation. He was awarded the BioFlorida Researcher of the Year in 2022. Dr. Hickman holds a BS and an MS from Penn State and a PhD in Chemistry from MIT.
H.C. Huang, PhD
Deerfield Discovery and Development (3DC)
Dr. Hsueh-Cheng (H. C.) Huang, Ph.D., Senior Director, Preclinical Pharmacology, Deerfield Discovery and Development, joined Deerfield in 2020. Prior to that, Dr. Huang spent eight years at Merck Research Laboratories, most recently as Principal Scientist/Director in Infectious Diseases and Vaccines, serving as Discovery Biology Lead on discovery, early development, and late-stage product development teams. Before Merck, he worked at Schering-Plough Research Institute, initially as a Postdoctoral Fellow and progressing to the role of Principal Scientist. Dr. Huang holds an AB in Physics and a PhD in Cell & Developmental Biology from Harvard University.
Edritz Javelosa, PhD
CMT Research Foundation
Edritz is responsible for all scientific aspects of the organization’s mission. Working with CMTRF’s Scientific Advisory Board, she oversees funded research as well as scientific programming for the Global CMT Research Convention. Further, she provides direction and research priorities for CMTRF’s investment program and leads scientific communications.
Edritz came to CMTRF from Muscular Dystrophy Association (MDA) where, as Research Portfolio Director, she led strategic alliances with external foundations to co-fund projects, managed 22 diseases under her portfolio, 34 active grants in 2023, and 19 active post-doctoral development grants. She holds a PhD in Neuroscience from Stanford University and a BSc in Molecular and Cell Biology from the University of Arizona.
H.C. Huang, PhD
update from agenda Deerfield Discovery
Dr. Hsueh-Cheng (H.C.) Huang, Ph.D., a Senior Director, Preclinical Pharmacology, Deerfield Discovery and Development, joined Deerfield in 2020. Prior to that, Dr. Huang spent eight years at Merck Research Laboratories, most recently as Principal Scientist/Director in Infectious Diseases and Vaccines, serving as Discovery Biology Lead on discovery, early development, and late-stage product development teams. Before Merck, he worked at Schering-Plough Research Institute, initially as a Postdoctoral Fellow and progressing to the role of Principal Scientist. Dr. Huang holds an A.B. in Physics and a Ph.D. in Cell & Developmental Biology from Harvard University.
Dennis Klein, PhD
University Hospital Wuerzburg
Dr. Dennis Klein is a Senior Research Scientist at the Department of Neurology in the University Hospital Wuerzburg, focusing on the pathogenesis of diseases of the central and peripheral nervous system. His particular interest is on the role of low-grade secondary inflammation as a disease amplifier in the pathogenesis of distinct CMT mouse models, but also during natural aging of the neuromuscular system. From this research direction, targeting innate inflammation emerges as a translational treatment option. After earning his degree in Biology at the University of Wuerzburg, Dr. Klein joined the laboratory of Professor Rudolf Martini (Developmental Neurobiology, Department of Neurology, Wuerzburg) for his PhD studies.
Kleopas Kleopa, MD, PhD, FAAN, FEAN
Cyprus Institute of Neurology and Genetics
In addition to being a Professor and Senior Neurologist at the Cyprus Institute of Neurology and Genetics, Dr. Kleopas Kleopa is Head of the Neuroscience Department and Coordinator of the Center for Neuromuscular Disorders, delivering cutting edge diagnostic and therapeutic services to patients with neuromuscular and rare neurological disorders. His research focuses on understanding neurological disease mechanisms and the development of innovative cell-targeted gene therapies for inherited neuropathies and leukodystrophies. Results of his research are currently being developed for clinical translation in collaboration with industry. Dr. Kleopa is an elected Board Member of the International Charcot-Marie-Tooth and Related Disorders Consortium. He also serves as a Member of the Scientific Advisory Boards of the USA CMT Association and the Gilbert Foundation Neurofibromatosis-1 Gene Therapy Initiative. Dr. Kleopa earned his MD and PhD at the University of Wuerzburg, Germany.
Megan Krench, PhD
Sanofi Ventures
Meg Krench has been with Sanofi Ventures since 2021. She previously worked as Director of Business Development at Vertex Pharmaceuticals where she was part of the External Innovation team. Prior to Vertex, Krench worked at RA Capital, a crossover investment fund, where her areas of focus included rare diseases, genetic therapies, and neuroscience. She currently serves on the Board of Directors for Veralox and sits on the Steering Committee of the New England Venture Network. Krench holds a PhD in Neuroscience from Massachusetts Institute of Technology and a BS with Honors in Neuroscience from The Pennsylvania State University.
Chelsea Layton
CMT Research Foundation
Chelsea volunteered her time and efforts to networking within the CMT community before joining CMTRF in December 2021. She also previously worked with at-risk youths and children with developmental disorders, as well as serving on the board for the Dayton Autism Society.
Chelsea has a Master of Arts degree in Forensic Psychology from Argosy University.
Chelsea was diagnosed with CMT1A from a young age, which can be traced back extensively through generations on her father’s side of the family. She became interested in knowing more about her condition during her early young adulthood after enduring years of medical interventions to alleviate her symptoms of CMT. She resides in North Carolina.
Gabsang Lee, DVM, PhD
Johns Hopkins University
Dr. Gabsang Lee has a strong background in modeling 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 in order to study peripheral nervous system disorders. He has received many awards, 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 areas of stem cell research, neurodegenerative diseases, and high throughput screening. Dr. Lee obtained his bachelor’s, doctoral, and Doctor of Veterinary Medicine degrees 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 University as Assistant Professor in the Department of Neurology and Institute for Cell Engineering (ICE) and then was promoted to Associate Professor.
Patrick Livney
CMT Research Foundation
Pat has CMT type 2 diagnosed but unconfirmed and has volunteered on behalf of families living with CMT for years. Through this work, he has come to understand the gaps in delivering treatments for CMT and wants to close them by making therapies available for all types of CMT.
Pat served as Chairman of the Board of Directors of the Charcot Marie Tooth Association for four years and as its CEO for five years. In 2008, he was instrumental in developing the CMTA’s STAR Research platform, dedicated to treating CMT through drug development. To this day, Pat continues to work with the brightest minds and best talent in CMT research.
Pat is currently the Board Chair at the CMT Research Foundation and CEO of Loan EcoSystem Online. Before that, he was the senior managing director and head of the Structured Finance Group at Vanderbilt Capital Advisors where he grew assets from $300 million to over $20 billion in four years. He also functioned as the CEO and chairman of the Vanderbilt Financial LLC, a permanent capital vehicle. Prior to that, Pat held senior positions in Institutional bond sales for Wall St firms. He has a degree in industrial engineering from Roosevelt University in Chicago and holds series 3, 7, and 63 certifications.
Christian Lorson, MD, PhD
Shift Pharmaceuticals
Dr. Christian Lorson is the co-founder and Chief Scientific Officer of Shift Pharmaceuticals. Shift has recently received orphan drug designation for their lead compound for SMA. Dr. Lorson joined the faculty in the College of Veterinary Medicine at the University of Missouri in 2002. He became a full professor in Veterinary Pathobiology in 2010 and currently serves as the Associate Dean for Research and Graduate Studies in the College of Veterinary Medicine and is an Associate Vice Chancellor for Research at MU. Dr. Lorson’s lab focuses on neuro- degenerative diseases, including the biology behind disease development as well as translational aspects, including drug development, gene therapy, and developing disease-appropriate models. Disease areas of interest include spinal muscular atrophy (SMA), SMA with respiratory distress, Charcot-Marie-Tooth (CMT), and ALS. After earning a Bachelor of Arts in biology at Colorado College in Colorado Springs in 1991, Lorson pursued graduate studies at the University of Missouri School of Medicine in the Molecular Microbiology and Immunology Department. In 1997 he completed a PhD with his focus on parvovirus gene expression. He then pursued postgraduate training at Tufts University School of Medicine in Boston.
Brett A. McCray, MD, PhD
University of Michigan
Dr. Brett A. McCray is a physician scientist with training in neuromuscular disease and a background in cellular and molecular neuroscience. He also runs a basic science and translational laboratory focused on inherited forms of peripheral neuropathy. His laboratory research is primarily focused on the pathogenesis of CMT2C and related disorders that are caused by gain-of-function mutations in the cation channel TRPV4. His laboratory studies cellular and animal models to gain insight into the role of TRPV4 in health and disease. Dr. McCray has also established a TRPV4 patient registry and specialized multidisciplinary natural history study to better define the course of the disease and lay the foundation for a future clinical trial. He received his MD and PhD degrees from the University of Pennsylvania where he worked with Dr. J. Paul Taylor on the pathogenesis of hereditary neuropathy due to mutations in Rab7. Dr. McCray then completed his neurology residency at the Mass General-Brigham Neurology program, followed by a neuromuscular fellowship at Johns Hopkins University.
Jeffrey Milbrandt, MD, PhD
Washington University, St. Louis
Dr. Jeffrey Milbrandt is the James S. McDonnell Professor and Head of Genetics; Executive Director of the McDonnell Genome Institute; Co-Director of the Needleman Center for Neurometabolism and Axonal Therapeutics; Professor of Pathology & Immunology, Medicine, and Neurology; and a member of the Hope Center for Neurological Disorders. His research uses genomic and metabolic approaches to understand the process by which unhealthy or injured axons degenerate, an early pathologic event that underlies most neurodegenerative diseases and peripheral neuropathies. His lab has made major discoveries, including identification and characterization of the GDNF neurotrophic factor family and identifying the molecular link between metabolism, NAD, and axon health. Most recently, in a joint effort with the DiAntonio lab, his lab found that SARM1, a crucial component of the axon degeneration pathway, is an enzyme that breaks down NAD and is a promising drug target for treatment for degenerative disorders. Together, Dr. Milbrandt and Aaron DiAntonio, MD, PhD, are founding Co-Directors of the Needleman Center for Neurometabolism and Axonal Therapeutics, which seeks to understand the influence of metabolism on neurodegenerative disease in order to identify new treatments for these disorders. They are also the scientific cofounders of Disarm Therapeutics, a company whose goal is to identify SARM1 inhibitors for treatment of neurodegenerative conditions that was recently purchased by Eli Lilly and Company. Dr. Milbrandt earned his MD from Washington University and his PhD in Biochemistry from the University of Virginia.
Albert Misko, MD, PhD
Novartis Institutes for Biomedical Research
Dr. Albert Misko is a pediatric neurologist and neuroscientist who focuses on the development of genomic medicines for neurodevelopmental disorders as a resident in the child neurology program at Massachusetts General Hospital. His focus is on caring for patients with neurometabolic disorders and building a translational research program to bring novel gene therapies to those patients. Dr. Misko earned both his MD and PhD at Washington University in St. Louis where under the mentorship of Dr. Robert Baloh he studied the role of Mitofusin 2 in mediating mitochondrial mobility and axonal integrity.
Michelle Moon, MD
Vancouver Clinic
Dr. Michelle Moon is a neurologist and palliative care physician who has been in practice for more than 10 years. Dr. Moon brings her clinical expertise and her personal passion to CMTRF as a Board Member Emeritus with the goal of preventing other families from suffering the devastating loss of a child to CMT. In 2016, she lost her five-year-old daughter, Julianna, to a severe and rare form of CMT. The coverage brought international attention to CMT, but her ultimate goal is to help the Foundation find a treatment. She continues to tell Julianna’s CMT story and the story of a grieving family on the blog michelle-moon.com and throughout social media. Dr. Moon received her medical degree from Nova Southeastern University.
Kathryn Moss, PhD
Johns Hopkins School of Medicine
Dr. Kathryn Moss is currently a postdoctoral fellow in the laboratory of Dr. Ahmet Höke at the Johns Hopkins University School of Medicine. Her research is focused on understanding the pathogenesis of CMT Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). She is interested in mechanisms of myelin dysfunction and secondary axon degeneration in CMT1A and HNPP as well as the physiological function of PMP22. Dr. Moss brings a unique perspective and dedication to her work as a patient with CMT1A. She is also engaged with the Peripheral Nerve Society as the Junior Committee Chair. Dr. Moss received her BS in Cellular and Molecular Biology from the University of Michigan and earned her PhD in Biochemistry, Cell and Developmental Biology at the Emory University School of Medicine.
William Motley, MD, PhD
Rapport Therapeutics
Dr. William Motley is currently Senior Director of Clinical Development and Program Lead at Rapport Therapeutics, a precision neuroscience company, and worked as a consultant to the company’s founding team at Boston-based Third Rock Ventures. Previously he served as Director of Translational Medicine for Flare Therapeutics and was a Senior Associate at Third Rock Ventures where he was a member of Flare’s founding team and worked on diverse aspects of company creation. Dr. Motley also serves as a member of the Medical and Scientific Advisory Board of Palvella Therapeutics, a company focused on bringing therapies to patients with rare dermatologic diseases with no approved therapies. A member of CMTRF’s Board of Directors since 2023, Dr. Motley holds an MD from the University of Pennsylvania, a Doctorate in Neurogenetics from the University of Oxford (UK), and a BA in Biochemistry from Middlebury College.
Bipasha Mukherjee-Clavin, MD, PhD
Johns Hopkins University
Dr. Bipasha Mukherjee-Clavin codirects the Johns Hopkins Charcot- Marie-Tooth multidisciplinary clinic and is the incoming site PI for the Inherited Neuropathies Consortium international CMT natural history studies. As a stem cell biology-trained physician-scientist, Dr. Mukherjee-Clavin’s research is focused on the use of patientderived induced pluripotent stem cells to model genetic Schwann cell and peripheral nerve disorders to undercover novel pathways and potential treatments. Dr. Mukherjee-Clavin completed her undergraduate studies at the University of California, Berkeley, followed by predoctoral research at the University of California, San Francisco. She then completed her MD/PhD degrees, Neurology residency, and clinical Neuromuscular fellowship in the Johns Hopkins University School of Medicine. She joined the Johns Hopkins Neurology faculty in 2022.
Trisha Multhaupt-Buell, MS, LCGC
Massachusetts General Hospital
Trisha Multhaupt-Buell provides clinical genetic counseling to patients and their family members in Massachusetts General Hospital’s Charcot-Marie-Tooth/Hereditary Motor Neuropathy Clinic and Dystonia Clinic. As a Genetic Counselor, she works to inform and guide patients on how inherited conditions might affect them or their families, how to interpret genetic test results, and how to provide emotional support as patients make healthcare decisions. A major focus of her work involves the oversight of multiple dystoniarelated movement disorders for human subjects research protocols. Multhaupt-Buell ensures high-quality research standard operating procedures, phenotypic data, and tissue sample collection to improve patient outcomes and prepare for eventual clinical trials. She received her undergraduate degree at the University of Michigan and completed her Master of Medical Genetics degree and genetic counseling training at the University of Cincinnati.
Thomas X. Neenan, PhD
Nanite
Before joining Nanite in 2022, Dr. Thomas X. Neenan was Cofounder and CSO of Panbela Therapeutics, a pharmaceutical company focused on diseases of the pancreas (formerly named SunBio Pharmaceuticals). Before that, he was Founder and CEO of AbFero Pharmaceuticals, Inc., a clinical-stage pharmaceutical company dedicated to treating diseases of iron overload. Dr. Neenan also served as Chief Business Officer of the Medicinal Bioconvergence Research Institute of Seoul National University and Founder and CTO of Sideris Pharmaceuticals, a biopharmaceutical company focused on the development of new treatments for transfusion-related iron overload. He holds a BScs (honors) in Chemistry from University College Dublin and a PhD in Chemistry from Penn State University.
Steve O’Connor, PhD
Shift Pharmaceuticals
Dr. Steve O’Connor is a seasoned entrepreneur with extensive experience in the life sciences industry. Over the past 25 years, he has cofounded numerous companies, including Clinical Micro Sensors in 1995, acquired by Motorola Life Sciences in 2000 for $320M, now marketed by GenMark Diagnostics. In 2000, Dr. O’Connor founded Nanostream, a life-science tools drug discovery company that raised ~$37M in venture capital and sold products to nearly every major pharmaceutical company in the world. He brings to Shift Pharmaceuticals significant experience in technology development, intellectual property, fundraising, business partnering, and company building. Dr. O’Connor received his PhD from the California Institute of Technology in 1995 and is a named inventor on more than 50 issued US patents.
Riccardo Perfetti, MD, PhD
Applied Therapeutics
Dr. Riccardo Perfetti has served as Chief Medical Officer of Applied Therapeutics since 2018. Before that he was the Senior Medical Officer, Vice President and Head of Global Medical Affairs, Diabetes and Cardiovascular Business Unit at Sanofi S.A., from 2007 to 2018. Prior to joining Sanofi, Dr. Perfetti held various roles at Amgen Inc., including Director and Global Development Leader in diabetes, obesity, metabolism, and endocrinology from 2004 to 2007. Dr. Perfetti was previously an associate professor of medicine at the University of California Los Angeles and a senior staff scientist at the National Institutes of Health (NIH). Dr. Perfetti practiced as an endocrinologist at Cedars-Sinai Medical Center and was also Director of the Diabetes Research Laboratory and Director of the Outpatient Diabetes Program. Dr. Perfetti received his MD and PhD in Endocrinology from the University of La Sapienza in Rome.
Wolfgang Pernice, PhD
Columbia University
Dr. Wolfgang Pernice is an Assistant Professor in the Department of Neurology at Columbia University Irving Medical Center. In 2023, Dr. Pernice founded the Laboratory for Digital Biology (LDB) at the H. Houston Merritt Center for Neuromuscular Medicine. Researchers at the LDB combine cutting-edge AI research with multi-modal, high-content single-cell biology, to develop generalizable technical solutions to current roadblocks in rare disease genomic medicine, from the discovery of novel disease genes, towards the development of therapeutic options. In this effort, the LDB actively pursues team science. With its partners, the LDB at the Merritt Center leads a patient-partnered approach that strives to better recognize and empower patient communities as the primary stakeholders, and as valuable contributors, in a joint biomedical research endeavor. Dr. Pernice earned his BSc, from Imperial College, London and his PhD from Columbia University.
Robert Prior, PhD
University of Bonn
Dr. Robert Prior is a Charcot-Marie-Tooth disease researcher and X-linked type 1 (CMTX1) patient. Currently a postdoctoral researcher at the University of Bonn, Germany, his work focuses on developing novel human induced pluripotent stem cell (hiPSC) derived models of neuromuscular junctions in the lab of Professor Volker Busskamp. In the lab of Professor Ludo Van Den Bosch, he worked on (1) investigating histone deacetylase (HDAC) inhibitors as a therapeutic strategy for CMT and (2) modeling of the lipid metabolic phenotype of CMT type 1A patient hiPSC-derived Schwann cell precursors. Dr. Prior actively participated in the launch of the Van Den Bosch group’s spin-off company Augustine Therapeutics, which aims to take novel HDAC6 inhibitors to treat CMT patients, both type 1 and type 2. Dr. Prior completed his PhD at VIB-KU Leuven (Belgium) Center for Brain & Disease Research.
Timothy Piser, PhD
Samsara Therapeutics
Dr. Timothy Piser is a neuropharmacologist with more than 25 years of experience leading neuroscience drug discovery and development in large public pharmaceutical companies and private VC-funded start-up biotech. During his early career at AstraZeneca, he led drug discovery programs in psychiatry and neurology through IND enabling studies and a global drug development program in Treatment Resistant Depression through Phase 2 clinical trials. More recently, as CSO at Cadent Therapeutics, and EIR at Atlas Venture, he led discovery and clinical development of NMDA receptor modulators in Depression and Schizophrenia, and SK channel modulators for Spinocerebellar Ataxia, leading to the acquisition of Cadent by Novartis. Dr. Piser holds a PhD in Pharmacology from the University of Minnesota.
Afrooz Rashnonejad, MSc, PhD
Ohio State University College of Medicine
In addition to her academic duties, Dr. Afrooz Rashnonejad is the principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital. Dr. Rashnonejad’s core expertise is in developing AAV-based gene therapies for rare neurodegenerative and neuromuscular diseases. In her own independent lab that started in April 2022, she develops novel AAV-based gene therapies for congenital myopathies and peripheral neuropathies. During her PhD studies from 2011 to 2017 at Ege University, she investigated intrauterine (aka prenatal or fetal) AAV gene therapy for Spinal Muscular Atrophy (SMA). Later, she developed CRISPR-Cas13-mediated DUX4-silencing and U7-snRNA-mediated exon-skipping approaches for treating facioscapulohumeral muscular dystrophy (FSHD) as well as characterizing a new FSHD mouse model.
Margaret Read, PhD
Vanderbilt University
Dr. Margaret Read joined Vanderbilt University in 2018 and before that was an independent consultant for pharmaceutical and biotechnology companies. She spent nine years at Infinity Pharmaceuticals, most recently serving as Vice President of Portfolio and Product Development. Prior to Infinity, Dr. Read was Director of Cell and Molecular Oncology at Millennium Pharmaceuticals and served as the Discovery leader on the Velcade product development team and was a Senior Scientist and Team Leader at ProScript before their acquisition by Leukocyte/Millennium. Before joining industry, Dr. Read was an Instructor and Research Fellow at Harvard Medical School, Division of Vascular Research at Brigham and Women’s Hospital. She holds a BS in Cell Biology from University of Tennessee and a PhD in Pathology from Vanderbilt University.
Susan Ruediger
CMT Research Foundation
Susan has CMT1A that she can trace back five generations in her mother’s family. Since 2007, she has been deeply engaged with the patient and research communities, building connections to fund efficient and effective research leading toward drug delivery.
From its launch in 2018, she was the Foundation’s CEO. In January 2022, she became the organization’s first Chief Mission Officer continuing to serve on the Board of Directors, helping support CMTRF’s rapid financial growth and serving as the primary spokesperson for the Foundation. Before that, she held a number of executive positions with CMTA.
As a member of the BIO Patient Advocacy Committee, Susan built a robust network of experts in drug delivery and patient advocacy and continues to be sought after by peers in patient-led drug discovery and as an expert in CMT. She has spoken on CMT at Georgia Tech, Emory University, Hanger, Inc., The American Orthotic and Prosthetic Association and BIO. Susan holds a Bachelor of Arts from Clemson University.
Natalia Sacilotto, PhD
Oryzon Genomics
Dr. Natalia Sacilotto is a molecular biologist working on the role of epigenetics in human diseases to create innovative therapeutic treatments. In 2016, she joined Oryzon Genomics, initially to lead the Cell Biology team and manage programs at different stages of drug discovery. Among these, she managed the screening and proof of concept and efficacy studies that led to the selection of their HDAC6 inhibitor candidate ORY-4001 that proved to be efficacious preclinically in CMT1A. Currently, Dr. Sacilotto oversees the translational strategies of both preclinical and clinical-stage programs of the company with a special focus on precision medicine approaches. She earned her Bachelor of Science in Biochemistry and Molecular Biology and her PhD in Molecular Biology and Genetics, Molecular Biology from the University of Calencia. Then Dr. Sacilotto did a postdoctoral fellowship at the University of Oxford.
Rachel Salzman, DVM
Armatus Bio
Prior to joining Armatus, a privately held preclinical stage biotech, Dr. Rachel Salzman was an Executive Vice President at Alcyone Therapeutics. Before that she cofounded SwanBio Therapeutics in 2017 and served as Chief Executive Officer and Director through 2019. She was the company’s President and Chief Portfolio & Development Officer until January 2021. She then founded UltraSquared Bio, a notfor- profit organization dedicated to bringing gene therapies to ultrarare populations where traditional business cases are not tractable. Prior to her time at Swan, Dr. Salzman was the Chief Science Officer of the Stop ALD Foundation a nonprofit employing entrepreneurial approaches and innovative methodology toward effective therapies, cures, and prevention of X-linked adrenoleukodystrophy (ALD), an often-fatal neurodegenerative disease. She holds a BS in Animal Science from Rutgers University and a DVM in Veterinary Medicine from Oklahoma State University.
Mario Saporta, MD, PhD, MBA, FAAN
University of Miami
Dr. Mario Saporta is a clinician-scientist and Associate Professor of Neurology and Human Genetics at the University of Miami Miller School of Medicine. He is the Medical Director of the University of Miami CMT Center of Excellence and MDA Care Center. Dr. Saporta conducts both clinical and translational research in genetic peripheral neuropathies. He is the North America Principal Investigator for the Pharnext Premier trial in CMT1A and leads a research lab focused on drug discovery and genetic therapy development for peripheral neuropathies using human induced pluripotent stem cell models. Dr. Saporta received his MBA in Health Care Management from Fundação Getúlio Vargas, and his PhD in Neuroscience, his MS in Neurology, and his MD from the Universidade Federal do Rio de Janeiro.
Eloise Schlafly
Moneta Group Investment Advisors
Eloise Schlafly is an advisor at Moneta Group Investment Advisors in St. Louis, Missouri, where she provides guidance on family financial matters such as tax and estate planning, changing education goals, and understanding investment implications. Personally affected by CMT 1E, Schlafly has always been a champion for research efforts and serves as a Young Professional at CMTRF. She joined Moneta after earning a BA in Economics from Rhodes College.
Eloise Schlafly
Moneta Group Investment Advisors
Eloise Schlafly is an advisor at Moneta Group Investment Advisors in St. Louis, Missouri, where she provides guidance on family financial matters such as tax and estate planning, changing education goals, and understanding investment implications. Personally affected by CMT 1E, Schlafly has always been a champion for research efforts and serves as a Young Professional at CMTRF. She joined Moneta after earning a BA in Economics from Rhodes College.
Cleary Simpson
CMT Research Foundation
Cleary Simpson has more than 30 years of experience in the marketing and advertising industries, having held senior positions in general management, sales and marketing, business development, emerging markets and product development. Before joining the Board of CMTRF, she was a Managing Director at consulting firm MediaLink, where she advised Fortune 500 media and entertainment companies and emerging technology companies on business strategy, revenue acceleration and organizational restructuring.
Prior to joining MediaLink, she was Senior Vice President for Global Marketing Solutions at Time Warner Inc., managing relationships with major companies such as Johnson & Johnson, Campbell’s, Wal-Mart, McDonald’s and Cadbury, to develop integrated advertising and content partnerships across Time Warner’s television, print, digital, film and book publishing companies. Earlier, Cleary worked in senior positions at Time Inc. properties, including TIME magazine and Sports Illustrated.
Cleary is a founding Board member at CMTRF and also served on the Boards of Do Something and St. Luke’s School (New Canaan, CT). She holds a BA in History and Asia Studies from Connecticut College and was a Fulbright Fellow in Japan.
Her daughter, Anna, has CMT1A.
Charlotte Sumner, MD
Johns Hopkins University
Dr. Sumner co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy, and the Charcot-Marie-Tooth clinics, which deliver multi- disciplinary clinical care, engage in international natural history studies, and provide cutting-edge therapeutics. Her practice is notable for its focus on individuals with inherited neuromuscular disorders of peripheral nerves and motor neurons, including spinal muscular atrophy and CMT. Her research focuses on developing treatments for degenerative disorders of motor neurons and peripheral nerves. Dr. Sumner received her medical degree from the University of Pennsylvania School of Medicine following undergraduate studies at Princeton University. She completed internal medicine internship and neurology residency at the University of California San Francisco, after which she returned to the east coast for a neuromuscular fellowship at Johns Hopkins and a neurogenetics fellowship in the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke.
Allison Taylor
Johns Hopkins University
A rising third-year year neuroscience graduate student at Johns Hopkins University, Allison Taylor uses fruit flies to study axonal forms of CMT. She is also a patient with CMT1X. Taylor graduated from the University of North Texas with a BS in Biology and did her postgraduate research at Oregon Health and Science University where she studied Schwann cell development of myelin. Recently, Taylor has focused her efforts on advocating for people with disabilities in STEM, and she works with BrainFest, a Baltimore outreach program designed to teach families about the nervous system.
Mark Veich
Deerfield Foundation
Mark Veich is a visionary leader at the forefront of bridging the gap between for-profit and nonprofit industries to drive transformative change in healthcare through philanthropy. With a wealth of experience gained from working in academic medicine at the University of Michigan and as the former Vice Provost of External Affairs at Weill Cornell, he brings unparalleled expertise and a deep-rooted passion for leveraging philanthropic capital to address critical medical needs that traditional investment might overlook. As the President of Advancium Health Network, Veich spearheads partnerships with industry and philanthropists to harness the potential of the Deerfield Ecosystem, propelling healthcare solutions forward with greater efficiency and effectiveness.
Anela Vukoja, PhD
Apollo Health Ventures
Dr. Anela Vukoja has been helping shape R&D strategy and clinical development plans in Apollo venture creations since 2020. She currently serves on the board of directors of several companies, including Samsara Therapeutics, Cleara, Booster Therapeutics, and Refoxy Pharmaceuticals. In addition, Dr. Vukoja helps evaluate new investment opportunities and initiates company creation projects, especially in neurodegenerative brain health. Before joining Apollo Health Ventures, she worked at Catenion, a boutique consulting firm, where she managed international projects for Big Pharma and biotech upstarts regarding R&D strategy and advised top-tier VCs and hedge funds on their investment decisions. Dr. Vukoja holds a PhD in Neurobiology from the Free University of Berlin.