News

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.

Celiprolol, a therapy that improves heart rate and reduces blood pressure, can strengthen the aortic walls in a mouse model of vascular Ehlers-Danlos syndrome (vEDS), preventing the aorta from rupture, according to an animal study. Results from the study, “Celiprolol but not losartan improves the biomechanical integrity of the aorta…

The therapy celiprolol increased the survival rate and possibly lowered annual incidence of arterial events in patients with vascular Ehlers-Danlos syndrome (vEDS), according to results of a long-term study announced by Acer Therapeutics. The results were published in the Journal of the American College of Cardiology, in…

Psychiatric disorders, namely depression, may affect almost half of patients with Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). Also, mental health problems may be associated with pain and gastrointestinal dysfunction in these patients, a study shows. These findings, researchers contend, support the need to screen for mental health…

Evaluation of the ability of a person to move his or her shoulder with an upward arm movement could help demonstrate joint hypermobility associated with Ehlers-Danlos syndrome (EDS), a study suggests. The study, “Gleno-humeral abduction measurement in patients with ehlers-danlos syndrome,” was published in the journal…

Gene expression analysis of skin cells identified several molecular pathways deregulated in classical Ehlers-Danlos syndrome (cEDS) patients, which may open new avenues for therapeutics, according to a new study. The study, “Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts,” was…

The Ehlers-Danlos Society announced that the large-scale Hypermobile Ehlers-Danlos Syndrome Genetic Research Study, aiming to find genetic markers underlying hypermobile Ehlers-Danlos syndrome (hEDS), has started recruiting participants. Following two independent and anonymous donations — each around $1 million — to the Ehlers-Danlos Society in early 2018 and 2019,…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…