News

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

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…

The Charcot-Marie-Tooth Association (CMTA) and Addex Therapeutics are teaming up to investigate a potential oral therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), in rodent models of the disease. Established under the association’s Strategy to Accelerate Research (STAR), the collaboration’s goal is to study the benefits of Addex’s proprietary technology —…

The CMT Research Foundation (CMTRF) is closing out its September CMT Action Month program with a virtual convention, a $10 million research campaign, and a partnership with the Muscular Dystrophy Association — all aimed at boosting collaborations and research to find a cure for Charcot-Marie-Tooth disease. According…

Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…

Mutations in the GARS gene — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — halt the first steps of protein production, new research shows. Specifically, the mutations cause ribosomes — the factories where proteins are assembled — to stall protein production. Therapies that can overcome this ribosome-pausing…

A European man was finally diagnosed with a rare mutation causing Charcot-Marie-Tooth disease type 1C (CMT1C), although his initial symptoms, including weakness of only one arm, were considered uncharacteristic of this disorder, a case report described. The study, “Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new…

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

A newly identified mutation in the ATP1A1 gene associated with an intermediate form of Charcot-Marie-Tooth disease (CMT) was found in an adolescent in Spain, scientists report. The mutation, detected through genetic analysis of CMT patients in a specific region of Spain, adds to the increasing number of ATP1A1 mutations…

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…