News

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Long-term exercise improves physical performance in patients with Prader-Willi syndrome (PWS), but immediate physiological response post-exercise appears unfavorable, a review of published studies shows. The study, “Physical exercise and Prader-Willi syndrome: A systematic review.” was published in the journal Clinical Endocrinology. PWS is associated with abnormal body composition and…

A group of clinicians has established a series of guidelines for the treatment of people with Prader-Willi syndrome (PWS). The guidelines are already being implemented at Tennessee’s Prader-Willi Clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt. The new guidelines were described in the study, “A multidisciplinary approach…

The Foundation for Prader-Willi Research (FPWR) recently announced the first-round winners of its 2019 research awards, which collectively totals a financial investment of $786,000 in grants. Theresa Strong, PhD, the foundation’s director of research programs, described the projects of the eight grant recipients and how their investigations may…

A research project aiming to uncover whether awakening “sleeping” genes could overcome the genetic errors underlying Prader-Willi syndrome (PWS) and lessen disease severity, has earned funding from the Prader-Willi Research Foundation of Australia and the U.S. Foundation for Prader-Willi Research. “[W]e hope they might help people with Prader-Willi syndrome by…

Biotech company Saniona announced the formation of a scientific advisory board to supervise and guide the developmental program of Tesomet (tesofensine/metoprolol) for patients with Prader-Willi Syndrome (PWS). The company also extended its Phase 2a open-label study (NCT03149445), testing the safety and efficacy of the treatment, in the…

Millendo Therapeutics presented an overview of its Phase 2b/3 clinical trial testing the long-term safety and efficacy of livoletide — a potential first-in-class treatment to control hyperphagia (excessive hunger) and food-related behaviors in Prader-Willi syndrome (PWS) — at the 21st European Congress of Endocrinology on May 18–21, 2019,…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…