List of Experts -
- Director Research and Development
- John P. Murtha Neuroscience and Pain Institute
- Attorney, Family Law, Special Education
- Private Practice, Maryland and Washington, DC
Dana Pauling, MS, CGC
- Genetic Counselor
- Reproductive Genetics Institute
David Feldman, M.D.
- Associate Professor, Departments of Pediatrics (Fac) and Orthopedic Surgery (HJD) and Hospital for Joint Diseases
David Pleasure, M.D.
- Professor, Neurology and Pediatric; Director, Institute for Pediatric Regenerative Medicine
- UC Davis School of Medicine
Glenn B. Pfeffer, M.D.
- Co-Director; Director of the Foot and Ankle Program
- Cedars-Sinai/USC Dance Medicine Center, Cedars-Sinai's Orthopaedic Center
Mary-Lynn Chu, M.D.
- Associate Professor; Director of Pediatric Services HJD Departments of Neurology and Hospital for Joint Diseases
Michael D. Stubblefield, M.D.
- Assistant Attending Physiatrist
- Memorial Sloan Kettering Cancer Center
- Ortho Rehab Designs Prosthetics and Orthotics Inc.
Pragna Patel, Ph.D.
- Professor of Biochemistry & Molecular Biology and Dentistry Institute for Genetic Medicine
- Keck School of Medicine of USC
Robert D. Chetlin, PhD, CSCS, HFI
- Associate Professor, Department of Occupational Therapy
- School of Medicine, West Virginia University
Robert S. Schwartz, C. PedI
- President and CEO
- Eneslow Pedorthic Enterprises, Inc.
Matt Westlake, CO
- Lorelei Orthodics
Sharon K. DeMuth, PT, MS, DPT
- Adjunct Assistant Professor of Clinical Physical Therapy
- University of Southern California, Division of Biokinesiology and Physical Therapy at the Herman Ostrow School of Dentistry of USC
Amparo Gutierrez, MD
- Associate Professor of Clinical Neurology Neurology Residency Program Director Director of the Muscular Dystrophy Association Clinic at LSU
Paul R. Scherer, DPM
- Clinical Professor at the College of Podiatric Medicine at Western University of Health Sciences
- Western University of Health Sciences
Robert Bernstein, M.D.
- Chief, Pediatric Orthopaedic Surgery
- Steven & Alexandra Cohen Children's Medical Center of NY Associate Professor of Orthopaedics and Pediatrics Hofstra/North Shore-LIJ School of Medicine at Hofstra University
Robert Tornambe, M.D.
- Board Certified Plastic Surgeon and author of The Beauty Quotient Formula, How to Look Your Best No Matter What Your Age
Until just a few years ago, CMT diagnosis and classification was typically made based on the results of a clinical examination and EMG tests. As various genes for CMT were discovered which then enabled DNA testing, it soon became apparent that diagnosis was much more definitive when a specific gene mutation could be associated with the clinical condition in the patient. As well, the completion of the Human Genome Project in 2003 made it easier to identify the genes underlying CMT and presently, 39 genes have been found to be associated with different forms of CMT and research on identifying additional genes still continues.
Gene identification has been pursued not only to promote accurate diagnosis but also to understand the disease process and to develop treatments for CMT.
Once the genes were discovered, animal models have been created to mimic the disease and allow testing of treatments. In fact, there was great promise in the use of ascorbic acid for treatment of people with CMT1A, the most prevalent form of CMT. Studies showed improvement in myelination and motor control for mice with CMT1A who were treated with ascorbic acid. Unfortunately, these results have not been replicated in humans. Development of effective treatments for CMT is a major focus of research presently.
by Keri Calandro : 5/4/2012 7:53:14 AM
A new stem cell line that carries the gene defect for Charcot-Marie-Tooth is now available for research.
by Keri Calandro : 3/31/2012 5:30:22 PM
A recent article in the Cell Metabolism Journal discusses the effect of exercise on DNA methylation. Learn how this relates to Charcot-Marie-Tooth.
by Carol Liu : 2/23/2012 7:57:56 AM
Ever wonder just how much research for Charcot-Marie-Tooth is being funded? The NIH provides one valuable resource.