RESEARCH PROGRAM
CMT4B3 RESEARCH NETWORK
We have built a global Collaborative Research Network to accelerate breakthroughs in Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3) and related neuromuscular diseases. Our researchers work together across the world, breaking down barriers to discovery by openly sharing their findings. This collaborative environment helps speed up research, leading to more breakthroughs and bringing us closer to treatments and cures for patients.
RESEARCH PROJECTS
We fund projects that aim to slow, stop, or reverse CMT4B3 and related neuromuscular diseases.
100% of donations support CMT4B3 research.
Dr. Robert Burgess
Jackson Laboratory
Recharacterize Mouse Model / Gene Therapy Testing
Grant Amount: $52,871 | Project Length: 1 Year
Dr. Burgess at Jackson Lab is rederiving and recharacterizing the CMT4B3 mouse model and testing gene therapy effectiveness. His work helps understand the molecular mechanisms at play in neuromuscular disorders, driving forward gene therapy solutions.
The Burgess lab 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. In all of these studies, they are addressing basic molecular mechanisms which have relevance to human neuromuscular and neurodevelopmental disorders. Their continued research on the genetics underlying these disorders, and their continuing efforts to identify new genes involved in these processes, will increase the understanding of the molecules required to form and maintain synaptic connectivity in the nervous system.
Dr. Jason Chua Johns Hopkins University
“Discovering the cell type-specific biology of MTMR5 using a novel iPSC-derived model system of CMT4B3”
Grant Amount: $200,000 | Project Length: 2 Years
Dr. Chua will create human cellular models using CRISPR and test FDA-approved drugs on them. His research focuses on autophagy, a key process in cells, which may provide new treatment strategies for neurodegenerative diseases like CMT4B3.
Dr. Chua’s primary research interests are in neurodegenerative disease with a special focus on autophagy — an essential housekeeping process in cells that is particularly important for the health of neurons. Autophagy may provide a way to break down the buildup of toxic proteins found in neurodegenerative diseases, thereby forming the basis of new treatment strategies for these incurable conditions.
Dr. Jim Dowling
SickKids Hospital
CMT4B3 Zebrafish Development
Grant Amount: $25,153 | Project Length: 1 Year
Dr. Dowling is developing a CMT4B3 zebrafish model using CRISPR/Cas9 to mimic the disease and identify phenotypes suitable for drug screening. His work focuses on discovering therapies for childhood muscle diseases.
The overall goal of Dowling's research program is to discover therapies for childhood muscle diseases. He is particularly focused on muscle disorders that present in infancy, including the congenital myopathies and the congenital muscular dystrophies. Dowling utilizes a combinatorial approach that includes new gene discovery (using next generation sequencing technology), model organism development (particularly using the zebrafish model system) and both targeted, and large scale screening drug discovery approaches. He complements this work with cutting edge rare disease clinical research related to natural history, outcome measure development, and interventional trials.
Dr. Jefferson Doyle
John Hopkins
CMT4B3 Motor Neurons / Small Molecule Research
Grant Amount: TBD | Project Length: 1 Year
Dr. Doyle will study the eyes of CMT4B3 knockout mice to evaluate progression and test treatments for myopia and retinal degeneration. His research seeks to develop new therapeutic strategies for genetic eye diseases.
Jefferson Doyle, specializes in pediatric ophthalmology and genetic eye diseases. Dr. Doyle has published extensively on a number of genetic disorders over the past decade, holds several patents for novel therapeutic approaches to treat them. Dr. Doyle's main research focus is understanding the genetic causes and molecular mechanisms driving genetic diseases, and utilizing that knowledge to develop new therapeutic strategies for them.
Dr. Scott Harper
Nationwide Children's Hospital
Gene Therapy - Split Vector
Grant Amount: $124,927 | Project Length: 1 Year
Dr. Harper is developing a split-vector AAV system to deliver the large SBF1 gene to neurons. This innovative approach could help overcome the size limitations of current gene therapy vectors, pushing us closer to a gene therapy solution for CMT4B3.
The Harper Lab is focused on developing RNAi-based treatments for dominantly inherited neuromuscular disorders. It uses a broad range of tools, including molecular techniques, biochemistry, viral vectors, and mouse models of disease.
Professor Henry Houlden
UCL Institute of Neurology
Natural History Study of CMT4B3 Patients
Grant Amount: $63,818 | Project Length: 18 months
Professor Houlden is studying clinical features and MRI scans of CMT4B3 patients to better understand disease progression. This knowledge will guide future therapeutic strategies.
Professor Houlden’s lab works on the genetics of neurodegeneration, peripheral nerve disease, ataxias, and paroxysmal movement disorders. The combination of genetic, functional cell biology and neuropathological methods is a particularly powerful approach for understanding neurological diseases and their pathological processes. His research group is carrying out a program of genetic and pathological investigations into human neurodegeneration. These genetic and neuropathological studies which integrate functional in vitro research, will translate into disease modifying treatments for human diseases.
Dr. Mario Saporta
University of Miami
Developing Human Platforms for Therapy Development for CMT4B3
Grant Amount: $250,960 | Project Length: 2 years
Dr. Saporta is using CMT4B3 iPSC lines to study disease symptoms and create models of motor neurons and sensory cells. His groundbreaking work could lead to small molecule therapies for CMT4B3.
Dr Saporta has spent the last five years developing human in vitro cellular models to study axonal phenotypes in inherited peripheral neuropathies (Charcot-Marie-Tooth Disease, CMT). CMT are a group of genetic neurodegenerative diseases caused by mutations in distinct genes that play fundamental roles in the physiology of peripheral nerves. He has identified abnormal distribution in the axons of human CMT2E/NEFL motor neurons as a cellular phenotype in CMT2E. He has used this model to investigate small molecules that could reverse this axonal phenotype. He will apply this groundbreaking work to CMT4B3.
Dr. Stephan Zuchner
University of Miami
Gene Therapy - MiniGene
Grant Amount: $208,050 | Project Length: 2 Year
Dr. Stephan Zuchner is designing a smaller version of the SBF1 gene to fit into the AAV9 vector. This engineered minigene will be tested for its ability to replicate the main functions of the full gene and potentially treat CMT4B3.
Dr. Zuchner is a trained neurologist and molecular geneticist with research interests in identifying genetic variation associated with disease. He has spearheaded the Inherited Neuropathies Consortium (INC) His lab has identified several genes for Mendelian neurodegenerative disorders and also evaluated risk factors for complex genetic conditions, including Alzheimer disease, Parkinson disease, and obsessive-compulsive disorder. His lab is amongst the pioneering groups that have promoted genome sequencing methods for disease gene identification in humans, mice, and drosophila.
Generating iPSC Lines & Edited iPSC Lines
Cost: $29,177 | Project Length: 1 year
We’ve partnered with Sampled to generate iPSCs and corrected iPSC lines using CRISPR technology. These stem cells provide an unlimited source of human cells for research, testing drugs, and learning more about disease mechanisms.
RESEARCH COLLABORATORS
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Elizabeth Jacobs
Elizabeth is a Postdoc at the University of Miami, where she is working with two of our Principal Investigators, Dr. Mario Saporta and Dr. Stephan Zuchner.
Recently, Elizabeth was awarded a highly competitive F30 National Institute of Health Grant, for her Proposal: “Mechanisms of Neurodegeneration in CMT4B3: A Complex Pediatric Neurodevelopmental Disorder.” For the first time, a CMT4B3 project will be listed on the official NIH Grant Registry.
Elizabeth is not only working tirelessly in the lab, but is also advocating for CMT4B3. This grant will enable her to raise awareness of CMT4B3 throughout the worldwide scientific community. Elizabeth's passion and dedication shines brightly whenever we see her, and we are so grateful for her devotion to developing a cure for CMT4B3.
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Gyula Acsadi, MD, PhD
Connecticut Children’s Hospital Division Head, Neurology
Director of Pediatric CMT Center of Excellence, at Connecticut Children’s Hospital. Dr. Acsadi is a member of the Scientific Review Committee of the Child Neurology Society, a Fellow of the American Academy of Neurology, a member of the International Child Neurology Association, and serves on the editorial board of Pediatric Neurology. Heads up the “Evaluation of Changes on Gait in Children and Youth with CMT” at the motion analysis lab at Connecticut Children's Hospital.
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Wendy Chung, MD PhD
Columbia Presbyterian Hospital
Dr. Wendy Chung is an ABMG board certified clinical and molecular geneticist with 20 years of experience in human genetic research. Dr. Chung directs NIH funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, congenital heart disease, and esophageal atresia, autism, neurodevelopmental disorders, pulmonary hypertension, cardiomyopathy, obesity, diabetes, and breast cancer. She leads the Precision Medicine Resource in the Irving Institute at Columbia University. She has authored over 300 peer reviewed papers and 50 reviews and chapters in medical texts. She led the pilot newborn screening study of spinal muscular atrophy in NY that helped lead to nationwide adoption of this test in newborns. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and served on the Institute of Medicine Committee on Genetic Testing. Dr. Wendy Chung is helping us identify and track biomarkers for CMT4B3.
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Matt Might, PhD
University of Alabama, Institute of Precision Medicine
Matt Might has served as Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB). At UAB, Matt is the Hugh Kaul Endowed Chair of Precision Medicine, a Professor of Internal Medicine and a Professor of Computer Science. At UAB, Dr. Might's NIH and philanthropically funded research focuses on precision prevention, diagnosis and therapeutics across rare disease, cancer and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine. At UAB, Dr. Might's NIH and philanthropically funded research focuses on precision prevention, diagnosis and therapeutics across rare disease, cancer and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine. Hunter is enrolled in this program, and Matt Might's team has used their computer algorithms to help identify possible drug repurposing candidates.
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Sabrina Yum, MD PhD
Children's Hospital of Philadelphia
Dr. Yum is an Attending Neurologist, Clinical Director of the CMTA Center of Excellence, and Co -Director of the Brachial Plexus Injury Program at Children's Hospital of Philadelphia. Dr. Yum is tracking the progression of CMT4B3, as well as developing valuable assessment scales for our Natural History Study.
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David M. Scher, MD
Hospital for Special Surgery, Pediatric Orthopedic Surgery
Dr. Scher specializes in pediatric orthopedic surgery, with special interests in children’s foot deformities including clubfoot, cerebral palsy, fractures in children and pediatric hip disorders. Dr. Scher’s primary focus is the clinical care of children with musculoskeletal conditions, ranging from simple fractures to severe congenital and developmental disorders. He also serves as co-medical director of The Leon Root Motion Analysis Laboratory, where advanced technologies are used for both research and clinical decision making to improve how children walk. Dr. Scher’s other academic and leadership roles include service as the education director of the pediatric orthopedic service at HSS, lectures at regional and national courses on pediatric orthopedics, and involvement in various committees within the American Academy of Orthopaedic Surgery, the Pediatric Orthopaedic Society of North America, the Pediatric Orthopaedic Club of New York, and the American Academy of Cerebral Palsy and Developmental Medicine.
