News

The gene-editing technology CRISPR/Cas9 effectively inactivated a specific mutation in the NEFL gene that causes Charcot-Marie-Tooth disease type 2E (CMT2E), a study reports. Correction of this mutation prevented the harmful buildup of neurofilament light chain (NfL) protein in motor neurons — specialized nerve cells that control muscle function —…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

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,…

Mutations in a particular region of the neurofilament heavy chain or NEFH gene cause an atypical, more severe form of Charcot-Marie-Tooth disease, called type 2CC or CMT2CC, according to a study reporting the cases of 30 patients from eight unrelated families. Notably, the presentation and progression of this subtype more…

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.

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…