News

Mutations in the gene SLC39A13 cause a very rare type of Ehlers-Danlos syndrome (EDS) that is characterized by short stature starting in early childhood and distinctive facial features, a study reports. Its researchers suggest approaches that could be helpful in diagnosing this rare EDS form, including facial analysis and…

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.

Mutations in the TGFBR1 gene, the underlying cause of some cases of vascular Ehlers-Danlos syndrome (vEDS), may lead to hearing loss by preventing the formation of key sensory cells in the inner ear during development, a study in mice has found. The research also provided key insights into 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…

Lack of the protein tenascin X (TNX) associated with classical-like Ehlers-Danlos syndrome (EDS) promotes higher pain sensitivity to tactile and chemical stimuli and aggravates inflammatory pain, a study in mice shows. These findings add knowledge to the mechanisms behind chronic pain in classical-like EDS and may help to identify other…

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…

People with Ehlers-Danlos syndrome (EDS) may see improvements in foot pain, foot functionality, mobility, fatigue, and mental health-related quality of life by using custom-made orthotic foot devices, a new study suggests. The study, “…

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…

On International Nurses Day (May 12) the The Ehlers-Danlos Society launched a new education and telementoring program especially for nurses who seek to improve their ability to care for people with Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD), the society announced. Part…

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…