News

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

The maternal SMCHD1 protein ensures genomic imprinting and the effective silencing of particular genes by protecting them from “gene-activating” proteins in the fertilized egg cell (or oocyte), according to a study in mice. Since SMCHD1’s gene silencing effects are known to contribute to Prader-Willi syndrome (PWS), these findings may help…

A Phase 2 clinical trial testing pitolisant as a treatment for excessive daytime sleepiness (EDS) in Prader-Willi syndrome (PWS) has started recruiting patients at its Texas site and is activating nine other study sites across the U.S. Harmony Biosciences expects the…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

Stress levels of parents of children with Prader-Willi syndrome (PWS) increase as the children age, and are especially high during their teenage years, according to a study. The study, “Parenting stress in families of children with Prader–Willi syndrome,” was published in the American Journal of Medical Genetics.

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…

Through the end of the year, the Prader-Willi Syndrome Association USA (PWSA USA) is offering 24-hour family support services to everyone in the Prader-Willi syndrome (PWS) community. The association’s family support team will provide emergency access to information and support for urgent medical and behavioral emergencies. Those in need…

Starting growth hormone therapy before the first birthday has significant benefits over beginning treatment at an older age in children with Prader-Willi syndrome (PWS), an analysis found. Children treated early grew taller, with a height similar to healthy children…

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…

In older children with Prader-Willi syndrome (PWS), the probiotic supplement BPL1 reduced abdominal fat, social withdrawal and depression, while also easing insulin resistance, a study reported. These findings are consistent with results…