News

Low-dose RGFP966 Molecule Aids Myelin Formation in CMT1A Mice

A low dose of a molecule known as RGFP966 boosted myelin production and improved electrical impulse conduction in nerves of a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study found. RGFP966 is a selective inhibitor (blocker) of histone deacetylase 3 (HDAC3), a protein that stops myelination,…

Europe Awaits Proposed New Framework for Sharing Health Data

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…

Family Affected by CMT1A Makes a Cure Their ‘Endgame’

It was an unexpected $1 million gift even for Kent and Michele Stahl. Austin Stahl, 28, and sister Hunter Stahl, 27, pose for a photo on a ski trip. (Photo courtesy of Hunter Stahl) The Charcot-Marie-Tooth Research Foundation (CMTRF) was hosting a research convention in September when it…

New Gene Mutation Linked to CMT4J in Woman, 62: Case Report

A 62-year-old woman was diagnosed with Charcot-Marie-Tooth (CMT) disease type 4J due to two alterations in the FIG4 gene — one of them a newly identified mutation — according to a case study. “The second mutation, c.2247dupC, p.Ser750GlnX10 is maternally inherited and not previously reported,” the researchers…

Managing Depression, Fatigue May Boost Quality of Life

People with Charcot-Marie-Tooth disease type 1A (CMT1A) have reduced quality of life, particularly in physical domains, a study from Serbia shows. Disease severity, depression, and fatigue are the main predictors of worse quality of life in this patient population. Given that there is still no treatment for this disease, managing…

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…