Marisa Wexler, MS, senior science writer —

A never-before-reported mutation in the GJB1 gene was identified in a recent case report as the cause of X-linked Charcot-Marie-Tooth (CMTX1) disease in two brothers — one of whom had more severe symptoms than the other. Both brothers showed elevated levels of a small RNA molecule called miR-206 — known…

People with Charcot-Marie-Tooth disease (CMT) type 2 are likely to experience inefficient sleep with more time spent awake after going to bed, according to a new study. “We can conclude that sleep in Charcot-Marie-Tooth disease is impaired, specifically for those with type 2 of the disease, which is evidenced…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

The proteins NCAM1 and GDF15 are present at higher-than-normal levels in the blood of people with Charcot-Marie-Tooth disease (CMT), and in mouse models of the disease, a new study indicates. Scientists think these proteins may be useful biomarkers across types of CMT. The study, “NCAM1 and…

Michele and Kent Stahl and their family have donated $1 million to the CMT Research Foundation (CMTRF). The donation goes to support CMTRF’s ENDGAME campaign, which aims to put an end to Charcot-Marie-Tooth disease type 1A (CMT1A), the most common subtype of CMT. Since ENDGAME launched in…

Several novel mutations in aminoacyl-tRNA synthetase (ARS) genes were linked with Charcot-Marie-Tooth disease (CMT) in a recent study out of Korea. “This study will be useful for performing exact molecular diagnoses and providing reference data for other population studies,” its researchers wrote. The study, “Variants of…

The CMT Research Foundation has awarded nearly $100,000 to support a project that is seeking a better way to deliver treatments to peripheral nerve tissue. “If successful, this work will provide the evidence for further development of this novel approach to overcoming the drug delivery challenge in CMT,” Susan…

The Hereditary Neuropathy Foundation, known as HNF, is joining forces with Rarebase, a biotech company, on a project that aims to identify potential treatments for multiple different types of Charcot-Marie-Tooth disease (CMT). It is the first research initiative to tackle multiple types of CMT in one project,…

A new podcast called “CMT 4 Me,” launched by the patient-led Charcot-Marie-Tooth Association, aims to give a voice to people living with Charcot-Marie-Tooth disease (CMT), and to raise awareness of the rare disorder. Its creators hope the format will provide a new outlet for patients and supporters who may…

Scientists have developed a new animal model of X-linked Charcot-Marie-Tooth disease type 6, or CMTX6, which is caused by a mutation in the gene PDK3. This new worm model — the first for CMTX6 in a living organism, according to researchers — may provide insights into treatment approaches…