News

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…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Problems with nerve cell communication and adaptation in the brain’s motor cortex is associated with the severity of motor difficulties in people with Rett syndrome, a study shows. The research — which used a non-invasive method to show such neural deficits in Rett patients for the first time —…

A comprehensive metabolic analysis uncovered significantly different levels of 66 molecules in people with Rett syndrome compared to their non-affected siblings, potentially providing a foundation to help better understand and treat the disease. The study, “Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings,” was published in the journal…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…