News

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Tracking the eye movements of children with Prader-Willi syndrome (PWS) may be a non-invasive, low-cost, and reliable method to assess their chronic desire to overeat, known as hyperphagia, a study suggests. The study, “Eye tracking as…

Severe fluid and calorie restriction induced rapid weight loss that was effectively maintained with liraglutide, according to a case report of a young woman with Prader-Willi syndrome (PWS). Titled “Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome,” the…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Central adrenal insufficiency, a deficiency in cortisol levels due to problems in the pituitary or hypothalamus, is rare in people with Prader-Willi syndrome (PWS), affecting 1.2% of patients, a study shows. Researchers, therefore, do not recommend routinely prescribing medications for central adrenal insufficiency to PWS patients — as…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

An online survey of ways to best promote a healthier lifestyle among people with Prader-Willi syndrome (PWS) is being conducted by the University of Cambridge with support from the International Prader-Willi Syndrome Organisation…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…