News

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…

The scientists who discovered the MECP2 gene and its role in Rett syndrome have been awarded the 2020 Brain Prize, the world’s largest neuroscience prize granted by the Lundbeck Foundation. Sir Adrian…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

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…

Taysha Gene Therapies has raised $30 million and established a partnership with UT Southwestern Medical Center to expand its gene therapy program for neurological disorders caused by mutations in a single gene, called monogenic diseases, including Rett syndrome. The funding will allow the company to expand its…

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…

Treatment with sarizotan failed to reduce apnea episodes (breathing stops) while awake compared to a placebo, failing to achieve the primary goal of the STARS Phase 2/3 clinical trial in people with Rett syndrome and breathing difficulties. …

FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

A form of gene therapy based on providing an unstable version of the MECP2 gene extended survival and improved motor function in a mouse model of Rett syndrome, a study reports. The study, “Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological…