News

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…

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…

A new study described a rare case of a young man with Prader-Willi syndrome (PWS) with an invasive infection of the ear canal and the skull base who was successfully treated with antibiotics. The research, “Malignant otitis externa in a 21-year-old male patient with Prader-Willi syndrome,” was…

A case report suggested that treatment with denosumab (commercial names: Prolia, Xgeva) could be effective for patients with Prader-Willi syndrome (PWS), osteoporosis, and a history of fractures. The case was reported in the journal Therapeutics and Clinical Risk Management, in an article titled “Efficacy of Denosumab Therapy for a…

UConn Health and the Foundation for Prader-Willi Research (FPWR) announced the creation of a centralized biobank to provide researchers worldwide with high-quality, validated stem cells for in-depth studies about the causes of PWS and possible treatments. Stem cells can differentiate into other types of cells, such as brain,…

A new blood test called EpiSign may help identify complex and hard-to-diagnose genomic imprinting disorders such as Prader-Willi syndrome (PWS). EpiSign, available in two versions, can diagnose 19 complex disorders. This newly available diagnostic tool, which identifies common DNA modifications, may also help researchers understand the clinical significance of genetic…