News

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 (MS), according to a case study. This is the first report of a recessive form of CMT — meaning…

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 disease he has — CMT2. Bruce Chizen was diagnosed in 2016, after decades of experiencing symptoms.

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 (CMT) for an additional period of five years. This is the second competitive grant renewal awarded to the…

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 disease (CMT) is thought to affect about 2.6 million people globally, including 25,000 in the UK, according…

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 proteins appears to determine disease severity, a recent study reports. The study, “…

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 of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot–Marie–Tooth disease,”…

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 of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

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 of grant funding builds on the more than $1 billion the MDA has already invested to promote the discovery…

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 therapy candidate for a form of Charcot-Marie-Tooth (CMT) disease. In the collaborative drug screen for…

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 forms of CMT, including type 4. CMTA has been funding projects for 30 years on…