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The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.

To discuss the latest information about Ehlers-Danlos syndrome (EDS) and related disorders, patients and their families, scientists, and clinicians will convene in Paris from March 21-22 for the first European Learning Conference. Presented by the Ehlers-Danlos Society, and held at the Hotel Mercure Paris Orly Rungis,…

Patients with mutations in either the COL1A1 or COL1A2 genes, which provide instructions for making a specific collagen protein, may show symptoms of both Ehlers-Danlos syndrome (EDS) and osteogenesis imperfecta (brittle bone disease), a retrospective study shows. Researchers propose that this overlap is a missing EDS type. The study ”…

Women with hypermobile Ehlers-Danlos syndrome have a smaller cortical bone — the outer part of the bone, essential for its resistance and strength — and for that reason are likely more prone to fractures, a study suggests. The findings were reported in “Higher fracture prevalence and smaller…

The rare disease status of Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD) should be re-evaluated, as both conditions seem to be more prevalent than previously thought, a U.K. study suggests. The study, “Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic…

Atypical headaches on one side of the head, caused by tearing of the walls of the carotid artery — the artery that supplies oxygenated blood to the brain — can be the only initial symptom of vascular Ehlers-Danlos syndrome (EDS), a case report suggests. The study, “…

A newly identified mutation in the TNXB gene, which leads to the loss of the Tenascin X protein, is associated with the development of classical-like Ehlers-Danlos syndromes (EDS), a rare subtype of EDS, according to a case report. The report, “Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.