News

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Despite similar clinical symptoms among kyphoscoliotic Ehlers-Danlos syndrome (kEDS) patients carrying mutations in the PLOD1 or FKBP14 genes, the molecular pathways underlying the disease may be different in each case, according to a new study. The study, “Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1-…

Regenerative treatment with tetradecyl sulfate and polidocanol injections helps stabilize joints in Ehlers-Danlos syndrome (EDS) patients with recurrent joint dislocation, a reassessment of medical records shows. The study, “Comparison of tetradecyl sulfate versus polidocanol injections for stabilization of joints that regularly dislocate in an Ehlers-Danlos population” was published in…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Acer Therapeutics announced that although it is going through a restructuring process, it stays committed to advancing the development of Edsivo (celiprolol), a potential treatment for vascular Ehlers-Danlos syndrome (vEDS). In June, the U.S. Food and Drug Administration (FDA) issued a complete response letter…

The Ehlers-Danlos Society and Backpack Health have announced a partnership to provide patients with Ehlers-Danlos syndrome (EDS) and other related rare diseases with a digital management platform to better access their medical records and data. The platform will be accessible from mobile devices and the internet; it will also be…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

For the first time, The Marfan Foundation’s annual conference will include topics concerning vascular Ehlers-Danlos syndrome (vEDS), a Marfan syndrome-related condition. In association with Texas Children’s Hospital, the foundation’s 35th conference will be July 11-14 in Houston. The meeting offers attendees an opportunity to learn more about…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Acer Therapeutics has received a complete response letter from the U.S. Food and Drug Administration (FDA) regarding its New Drug Application for Edsivo (celiprolol) for treatment of vascular Ehlers-Danlos syndrome (vEDS), the company announced. In the letter, the FDA requested additional data from “an adequate and well-controlled…