News

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

The frequency of skin picking and anxiety in people with Prader-Willi syndrome (PWS) depends on their specific type of genetic defects, an eight-year study found. Treatment with growth hormone (GH) therapy increased the prevalence of anxiety to a different extent in specific genetic groups, the data showed. The study,…

The Prader-Willi Syndrome Association (PWSA) USA, a nonprofit organization that supports education, advocacy, and awareness for those with the complex genetic disorder, announced that it will hold its first benefit concert, “Hope for the Holidays,” on Sunday, Dec. 13, at 7:30 p.m. EST. The free, virtual event — designed…

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…