News

New MCM3AP Gene Mutation Linked to CMT in Chinese Girl

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…

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

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…

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

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…

Yeast Model May Help Assess CMT4A Mutations

A yeast model could be used to assess the biological consequences of mutations in the GDAP1  gene, which can cause Charcot-Marie-Tooth type 4A (CMT4A). The model was described in “Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model,” a study published in the journal Genes.