News

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

A mutation in the EGR2 gene that by itself does not cause disease was seen to result in Charcot–Marie–Tooth disease in a Spanish family, due to the concurrent presence of another non-disease causing variation in the LITAF gene, a case study reported. The deficiency in both genes — which…

Scientists have described a new genetic mutation in the PMP22 gene associated with a severe and early-onset form of Charcot-Marie-Tooth disease type 1A (CMT1A) in a 9-year-old girl. The case was reported in the study, “A novel homozygous variant extending the peripheral myelin protein…

Women with Charcot-Marie-Tooth (CMT) disease do not have a higher rate of pregnancy or delivery complications than women who do not have the disease, a study has found. The study, “Pregnancy outcome in Charcot‐Marie‐Tooth disease: results of the CMT‐NET cohort study in Germany,” was published in…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

A newly identified mutation in the MCM3AP gene caused Charcot-Marie-Tooth disease (CMT) in a girl with early motor development delay, a study reports. Findings also suggest that mutations in this gene that result in no functional MCM3 protein are associated with more severe symptoms, including a delayed…

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

Mutations in nine genes associated with Charcot-Marie-Tooth disease type 2 (CMT2) generally lead to similar deficits in muscle structure and function, as well as in motor neuron and muscle cell communication, a study in worms suggested. This work sheds light on the function of each gene associated with CMT2,…