News

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

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…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

A young girl diagnosed with Ehlers-Danlos syndrome (EDS) exhibited a rare case of so-called odontogenic keratocysts — benign cystic lesions characterized by aggressive growth — in her jaw, according to a case report. The report highlights the importance of an interdisciplinary approach for diagnosis and treatment of such complex…

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, “…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

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…

Joint hypermobility syndrome, including hypermobile Ehlers–Danlos syndrome (hEDS), is present in a large proportion of people with functional dyspepsia — a common gastrointestinal disorder also known as indigestion without an underlying cause, a study showed. The presence of joint hypermobility, however, does not significantly prevent the digestive system from working…

A new mutation causing classical Ehlers-Danlos syndrome (EDS) has been identified in a child whose parents did not carry the mutation. The mutation is of a type known to cause more severe symptoms. The case report, “Glycine substitution mutation of COL5A1 in classic Ehlers–Danlos syndrome: a case report…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…