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November 15, 2019November 16, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

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Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. ... Read more

November 15, 2019November 15, 2019

CRISPR/Cas9 Treatment Can Improve Nerve Functioning in Mouse Model of CMT1A, Study Suggests

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Using CRISPR/Cas9 technology to reduce the expression of the gene PMP22 in nerve cells can improve nerve functioning and limit demyelination (damage to the protective covering that surrounds nerve ... Read more

November 12, 2019November 12, 2019

Small Molecule Embelin Rescues CMT Disease Features in Fly Model, Study Shows

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Embelin, a small molecule, rescues hallmark features of Charcot-Marie-Tooth (CMT) disease by stopping a mutant protein from entering the cell’s nucleus, a study in a fly model of the ... Read more

November 8, 2019November 8, 2019

Case Report Describes First Case of CMTX5 in a Chinese Person

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A novel mutation in the gene PRPS1 was identified in the first case of X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) in China. The finding was described in a case report published ... Read more

November 6, 2019November 6, 2019

Gene Therapy Strategy Treats Charcot-Marie-Tooth Type 2D Mice, Study Shows

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Researchers have successfully used adeno-associated virus-mediated gene therapy to treat mice that replicated a novel mutation found in a Charcot-Marie-Tooth Type 2D patient with severe disease. The study describing ... Read more

October 30, 2019October 30, 2019

Mutations in Gene Tied to CMT2K Seen to Affect Cellular Energy and Oxidative Stress in Early Study

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Mutations in the GDAP1 gene — which are linked to Charcot-Marie-Tooth disease type 2K (CMT2K) — can affect how well mitochondria are able to keep cells supplied with essential energy, a lab ... Read more

October 25, 2019October 25, 2019

Natural Course of DI-CMT Type C Linked to Worsening Mobility, Quality of Life Over Time, Study Reveals

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The natural course of dominant intermediate Charcot-Marie-Tooth (CMT) disease neuropathy subtype C includes progressively worsening mobility and quality of life over time, a long-term follow-up study shows. Titled “Longitudinal ... Read more

October 22, 2019October 22, 2019

Engineered Gloves Can Detect Worsening Hand Function in People with CMT, Study Reports

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A new system can detect the worsening of hand function over time in people with Charcot-Marie-Tooth disease (CMT), researchers in Italy have found. Their study, titled “Characteristics and Evolution of ... Read more

October 17, 2019October 17, 2019

New MCM3AP Mutation Linked to 3 Cases of CMT and Multiple Sclerosis Within One Family

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A new genetic mutation in the MCM3AP gene was identified and associated with three cases of Charcot-Marie-Tooth (CMT) disease in one family, who also showed symptoms of multiple sclerosis ... Read more

October 15, 2019October 15, 2019

CMTA Special Adviser Issues $500K Matching-donation Challenge to Boost CMT2 Research Efforts

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A special advisor to the Charcot-Marie-Tooth Association’s (CMTA) board of directors says he will match donations dollar-for-dollar up to $500,000 to support the organization’s research strategy to fight the ... Read more

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