News

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Soleno Therapeutics recently released an update on the company’s achievements during 2017 and plans for its investigational therapeutic for Prader-Willi syndrome (PWS), a condition currently without an approved therapy. One of the highlights for the next steps in PWS is the FDA’s agreement with Soleno’s for a Phase 3 clinical…

Rhythm Pharmaceuticals has acquired the rights to develop and commercialize RM-853, an investigational therapy currently in preclinical research for Prader-Willi syndrome (PWS). RM-853, formerly known as T-3525770, is a potent oral inhibitor of ghrelin o-acyltransferase (GOAT), the key enzyme involved in the body’s production of the active form of ghrelin,…

If Theresa Strong didn’t keep the family fridge locked, her 23-year-old son Daniel might very well eat himself to death. It sounds shocking, but that’s part of the daily routine for parents of children and young adults with Prader-Willi syndrome (PWS), a complex genetic disorder that affects about 1…

The Gairdner Foundation recently announced the 2018 Canada Gairdner awardees for $100,000 prizes that recognize important research and biomedical discoveries. Among the five laureates are Davor Solter and Azim Surani for their discovery of parent-inherited genomic imprinting, a mechanism that regulates gene activity and can induce diseases such as Prader-Willi…

Caring for patients with Prader-Willi syndrome (PWS) has a significant effect on caregivers’ quality of life, and caregivers are in need of better support, a recent study found. Despite the positive effects that growth hormone therapy has had for patients with PWS, including improving their height, strength, and sense of well-being, those…

Silent aspiration, a consequence of a swallowing dysfunction, was detected in infants with Prader-Willi syndrome (PWS) by fluorescent live video, a study found. The research was published in the journal Medicine (Baltimore) in a study titled, “Silent aspiration in infants with Prader-Willi syndrome identified by videofluoroscopic swallow study.”…

Obesity and insulin resistance are significant risk factors for developing type 2 diabetes in patients with Prader-Willi syndrome (PWS), highlighting the importance of regular monitoring of glucose, or sugar, levels in these patients. Severe obesity in childhood, which may develop into type 2 diabetes, is a common feature in patients…

Only 40% of orchidopexies — a surgery to correct undescended testes — in patients with Prader-Willi syndrome (PWS) are successful, compared to a high rate of success in the general population, according to a new study. Cryptorchidism is the failure of one or both testes to descend from the…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…