News

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,…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…