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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

October 10, 2019October 10, 2019

Inherited Neuropathy Consortium Awarded $7.2M to Continue Studying, Improve Care for CMT

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The National Institutes of Health (NIH) granted almost $7.2 million to the Inherited Neuropathy Consortium (INC) to further support its work improving care and clinical research on Charcot-Marie-Tooth disease ... Read more

October 9, 2019October 9, 2019

UK Charity Seeks to Boost CMT Knowledge During Awareness Month in October

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During Charcot–Marie–Tooth Awareness Month in October, the nonprofit CMT UK is aiming to increase knowledge about what it calls a common rare disease in the United Kingdom (UK). Charcot–Marie–Tooth ... Read more

October 3, 2019October 3, 2019

Mutations Change Shape of Gene’s Protein to Determine Severity of CMT, Study Suggests

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Mutations that affect special enzymes crucial for protein production and closely associated with Charcot-Marie-Tooth (CMT) disease cause changes to their shape and flexibility. The degree of change to these ... Read more

October 1, 2019October 1, 2019

Small RNA Molecule miR-29a May Have Therapeutic Role in CMT1A, Study Says

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A small RNA molecule called miR-29a can prevent Schwann cells from producing abnormal PMP22 transcripts associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a study has found. The study, “Downregulation ... Read more

September 27, 2019September 27, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

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Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board ... Read more

September 26, 2019September 26, 2019

2 CMT Research Projects Among 25 MDA Grants Totaling More Than $6.6M

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The Muscular Dystrophy Association (MDA) has awarded 25 research grants totaling more than $6.6 million to scientists working on different neuromuscular diseases (NMDs), including Charcot-Marie-Tooth disease (CMT). This round ... Read more

September 24, 2019September 24, 2019

CMTRF/AcuraStem Partnership Yields Promising CMT2A Therapy

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In a research partnership with the CMT Research Foundation (CMTRF), a prospective treatment being developed by AcuraStem for amyotrophic lateral sclerosis (ALS) was found to be a promising preclinical ... Read more

September 19, 2019September 19, 2019

CMT Association Grants $335K to Research Projects that Advance Therapy Development

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The Charcot–Marie–Tooth Association (CMTA) has granted $335,000 to two research projects focused on the development of new therapies for Charcot–Marie–Tooth (CMT) disease type 1A, type 1B, and other demyelinating ... Read more

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