News

Scientists, armed with new technologies, cracked a 20-year mystery surrounding a girl diagnosed with two rare inherited disorders, Angelman syndrome and cholesterol side-chain cleavage enzyme (P450scc) deficiency, by finding both have a common genetic origin. Their case report, “Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to…

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,…

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…

Researchers have developed a new quick and accurate molecular diagnostic test for patients with either Angelman and Prader-Willi syndrome. Their study, “A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients,” was published in Molecular Genetics &…

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…

Swiss pharmaceutical giant Roche plans to begin recruiting this summer for an endpoint study in Angelman syndrome that will not test any drug therapy. Instead, the study aims to find ways to measure disease impact in the home and clinic — and use new technologies to learn about…

Ovid Therapeutics’ experimental therapy OV101 has been shown to improve sleep, motor function, communication skills, and reduce challenging behavior and anxiety in patients with Angelman syndrome in a Phase 2 study. Results from the trial were recently discussed at the 2019 American Academy of Neurology’s (AAN)…

While children with Angelman syndrome typically show happy, excitable behavior, they also are prone to hyperactivity and irritability, and tend to have short attention spans and aggressive outbursts — all of which have a negative impact on parents’ stress…

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…

EpiSign is a newly developed blood test that helps diagnose several diseases, including Angelman syndrome, based on specific genetic changes in cells. EpiSign was developed as a collaborative effort between Greenwood Diagnostic Laboratories at the Greenwood Genetic Center in South Carolina and Ontario’s London Health Sciences Centre (LHSC). Diseases can develop in…