News

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…

A CRISPR/Cas9-based gene editing strategy was able to restore production of type VII collagen protein (C7) in skin cells from a patient with severe dystrophic epidermolysis bullosa (DEB), a study shows. The finding shows that this method of DNA repair may be able to revert DEB-associated complications, researchers…

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.

A new collaboration between the University Carlos III Madrid (UC3M), Almirall, and the Medina Foundation aims to find treatments for recessive dystrophic epidermolysis bullosa (RDEB) and other genetic diseases caused by nonsense mutations, or those that result in shortened proteins. The project is partially funded by…

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…

Treatment with PTR-01 is well-tolerated and safe, and increases the levels of collagen type VII (C7) in the skin of adults with recessive dystrophic epidermolysis bullosa (RDEB), early data from a Phase 1/2 trial show. The PTR-01-001 study (NCT03752905) seeks to evaluate PTR-01 treatment in…

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.

When applied directly over skin wounds, the antibiotic gentamicin can restore the production of laminin 332 and promote wound closure in people with generalized severe junctional epidermolysis bullosa (GS-JEB), a Phase 1/2 trial shows. The findings were reported in the study “Gentamicin Induces Laminin…

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…

The European Medicines Agency (EMA) granted orphan drug designation to an investigational, and yet unnamed, potential therapy for recessive dystrophic epidermolysis bullosa (RDEB) based on CRISPR-Cas9 gene editing. This designation confers certain incentives, including advice from the EMA during the development process, reduced or exempted fees and…

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…