News

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Pain in people with hypermobile Ehlers-Danlos syndrome (hEDS) likely is the result of an impaired pain suppression system that may lead to widespread pain, a study shows. The data, which also contradict a previous theory that EDS-related pain was caused by damage in nerve fibers, may help in the development…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

In patients with Ehlers-Danlos syndrome (EDS), defects in the aortic carboxypeptidase-like protein (ACLP) — a protein that plays a key role in wound healing and tissue scarring (fibrosis) — lead to its retention inside cells, increasing cellular stress. According to researchers, these findings may be relevant for the development…

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…