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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,…

Investigations into two newly developed mouse models that mimic the pathology, or typical behavior of vascular Ehlers-Danlos syndrome (vEDS) have revealed that alterations in collagen production and signaling pathways underlie the connective tissue disorder. Blocking these signaling pathways protected…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

A gene expression analysis identified several deregulated pathways in fibroblasts from classical Ehlers-Danlos syndrome (EDS) patients, offering new insights for future studies investigating the disease mechanisms and potential therapies, a study reports. The study, “Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Erector spinae plane (ESP) block can improve the safety of surgical procedures in patients with Ehlers-Danlos syndrome (EDS) and offer effective pain relief, according to a case report. The study evaluated pain perception in a patient after vascular ring repair surgery. The case report, “The erector spinae plane block…

The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…

The Cherry Hill Education Association raised more than $10,000 for the non-profit organization Ehlers-Danlos Society through its 14th annual “Volley for Support” fundraising tournament that took place in October 2018. The Society’s global community includes patients, caregivers, healthcare professionals, and supporters, who work to improve the lives of…