News

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

To promote the value of exercise in Charcot-Marie-Tooth disease, the Hereditary Neuropathy Foundation is bringing its latest summit to central Florida. The free Movement is Medicine Summit Orlando will be held March 21 in Winter Park at the 80,000-square-foot, state-of-the-art Center for Health and Wellbeing, a…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

The density of nerve fibers found within the epidermis — the outermost layer of the skin — can be used to evaluate outcomes in clinical trials involving patients with Charcot-Marie-Tooth type 1A (CMT1A), a new study shows. The study, “Intraepidermal nerve fiber density as biomarker in Charcot-Marie-Tooth disease…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

The Institute for Gene Therapies (IGT) has launched, with the aim of maximizing the potential of gene therapies in genetic disorders such as Charcot-Marie-Tooth (CMT) disease. Comprised of industry leaders, scientists, and patient advocates, the IGT’s overarching goal is to set the foundation for a modernized regulatory…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Stroke-like symptoms and mild cognitive impairment are among non-specific symptoms that may suggest X-linked Charcot-Marie-Tooth type 1 (CMTX1), a case series shows. The series, “GJB1 Mutation-A Disease Spectrum: Report of Case Series,” was published in the journal Frontiers in Neurology. CMTX1, also called X-linked CMT,…

X-Linked Charcot-Marie-Tooth Type 1 (CMTX1) should be considered in the differential diagnosis of women experiencing recurring stroke-like symptoms, such as slurred speech and limb weakness, and showing abnormal findings in brain magnetic resonance imaging (MRI) scans, according to a case report. The study, “Recurrent Stroke-Like…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…