News

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

A diagnosis of spontaneous renal artery dissection (SRAD) should be considered in Ehlers-Danlos syndrome (EDS) patients who experience sudden abdominal pain, a case report highlights. The report, “Spontaneous Renal Artery dissection in Ehler-Danlos Syndrome,” was published in the journal Kidney International Reports. Renal infarction is the…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

The Ehlers-Danlos Society presented Jameela Jamil, a British actor and activist, with the Patient Advocate of the Year award at its 2019 Global Learning Conference, held recently in Nashville, Tenn. After accepting the honor through a video link, “The Good Place” television series star thanked the society for…

Patients with mutations in the COL5A1 and COL1A1 genes that code for collagen proteins have both Ehlers-Danlos syndrome (EDS) and a bone disease called osteogenesis imperfecta (OI), according to a study in a Chinese family. The research, “Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

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…