News

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Many patients with Prader-Willi syndrome may manifest psychotic symptoms that meet the diagnostic criteria of cycloid psychosis, a study shows. However, this particular psychological condition is often disregarded by clinicians, which may prevent prompt and adequate care. This finding was reported in a study, “…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

A new case report illustrates the importance of prenatal genetic tests when clinical signs strongly suggest a diagnosis of Prader-Willi syndrome (PWS). The study, “Possibility of early diagnosis in a fetus affected by Prader-Willi syndrome with maternal hetero-UPD15: A lesson to be learned,” was published in the…

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…