Forest Ray PhD,  —

Scientists finally may have discovered a gene mutation that associates with hypermobile Ehlers-Danlos syndrome (hEDS) — and their findings, eagerly awaited by the hEDS patient community, are expected to be written up within the next six months, they said. While known mutations are linked with various EDS subtypes, hEDS cases…

Aytu BioPharma has acquired the option to license DB102 (enzastaurin), an investigational anti-tumor therapy with the potential to treat vascular Ehlers-Danlos syndrome, or vEDS. Denovo Biopharma, which holds worldwide rights to DB102 — originally developed as an oncology treatment — will continue to develop the oral therapy…

Genes involved in Ehlers-Danlos syndrome (EDS) appear to play a role in keratoconus (KC) — a thinning of the eye’s cornea. This finding, from a recent study, is the first to demonstrate shared genetic variations between the two disorders although their association has been suggested. The study, “…

Note: This story was updated April 1, 2021, to note that the patient’s medical history included an inflammation of the peritoneum, not the perineum. Physicians should determine a patient’s specific type of Ehlers-Danlos syndrome (EDS) by identifying the underlying genetic mutations, as this is needed to best manage possible…

Hospitalized patients with Ehlers-Danlos syndrome (EDS) experience more gastrointestinal (GI), cardiovascular, nervous, and allergic conditions than those without EDS, a recent study has found. The findings suggest physicians should consider the possibility of EDS and exercise appropriate precautions when examining patients in whom these conditions have no other apparent…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

Corrective eye surgery may be an option for some types of Ehlers-Danlos syndrome (EDS), according to a recent case report. Eye surgery is generally not recommended for EDS patients because of the high risk of scarring and other complications. The disorder is often caused by mutations that affect the…

Physicians should suspect vascular Ehlers-Danlos syndrome when a patient shows recurrent pulmonary complications and unusually thin skin and hypermobile joints, a case report suggests. The patient was found to have a previously unknown gene mutation that affected a connective tissue protein, its investigators wrote. Their report, “Recurrent pneumothorax and…