List of Experts -

Barbara Duryea

  • Director Research and Development
  • John P. Murtha Neuroscience and Pain Institute
  • contact

Kimberly Glassman

  • Attorney, Family Law, Special Education
  • Private Practice, Maryland and Washington, DC
  • contact

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
  • NYU
  • contact

David Pleasure, M.D.

  • Professor, Neurology and Pediatric; Director, Institute for Pediatric Regenerative Medicine
  • UC Davis School of Medicine
  • contact

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
  • contact

Mary-Lynn Chu, M.D.

  • Associate Professor; Director of Pediatric Services HJD Departments of Neurology and Hospital for Joint Diseases
  • NYU
  • contact

Michael D. Stubblefield, M.D.

  • Assistant Attending Physiatrist
  • Memorial Sloan Kettering Cancer Center
  • contact

Mitch Warner

  • Founder
  • Ortho Rehab Designs Prosthetics and Orthotics Inc.
  • contact

Pragna Patel, Ph.D.

  • Professor of Biochemistry & Molecular Biology and Dentistry Institute for Genetic Medicine
  • Keck School of Medicine of USC
  • contact

Robert D. Chetlin, PhD, CSCS, HFI

  • Associate Professor, Department of Occupational Therapy
  • School of Medicine, West Virginia University
  • contact

Robert S. Schwartz, C. PedI

  • President and CEO
  • Eneslow Pedorthic Enterprises, Inc.
  • contact

Matt Westlake, CO

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
  • contact

Amparo Gutierrez, MD

  • Associate Professor of Clinical Neurology Neurology Residency Program Director Director of the Muscular Dystrophy Association Clinic at LSU
  • LSU
  • contact

Paul R. Scherer, DPM

  • Clinical Professor at the College of Podiatric Medicine at Western University of Health Sciences
  • Western University of Health Sciences
  • contact

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
  • contact

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
  • contact

CMT Research

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.

Stem Cell Line with Charcot-Marie-Tooth Available for Research

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.

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CMT Research Update: DNA Methylation and Exercise

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.

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Research Funding for 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.

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CMT Research Update: The Drug Discovery Process

by Keri Calandro : 1/20/2012 8:52:02 AM

A recent article from the MDA outlined the drug discover process and informs our approach Charcot-Marie-Tooth research.

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