Patricia Inácio, PhD, science writer —

Gene expression analysis of skin cells identified several molecular pathways deregulated in classical Ehlers-Danlos syndrome (cEDS) patients, which may open new avenues for therapeutics, according to a new study. The study, “Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts,” was…

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…

Patients diagnosed with periodontal Ehlers-Danlos syndrome (EDS) may also have changes in the brain’s white matter, which makes up the tissue in the brain and spinal cord, a case series reports. Periodontal EDS is the rarest form of EDS, and is characterized by severe early-onset gum disease. The…

Approximately two in five children and adolescents with Ehlers-Danlos syndrome experience impaired breathing during sleep, a condition called obstructive sleep apnea (OSA), a study reports. The condition increases daytime sleepiness and sleep-related breathing disorders, which reduce the quality of life. The study, “Obstructive Sleep Apnoea in Children and Adolescents…

Nearly half of patients with vascular Ehlers-Danlos syndrome experience gastrointestinal injuries, but men seem to carry an increased risk and severity than women, a 17-year retrospective study shows. The study, “Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: a 17-year retrospective review,” was published in the Journal…

Acer Therapeutics submitted a new drug application (NDA) seeking the approval of its investigative therapy Edsivo (celiprolol) for vascular Ehlers-Danlos syndrome (vEDS) to the U.S. Food and Drug Administration (FDA). Acer requested priority review and, if granted, the FDA will have 60 days to accept or reject the application.

Pain in patients with Ehlers-Danlos syndrome (EDS) due to arthritis in the joint that attaches the thumb to the hand can be successfully managed with surgery, according to researchers from the Mayo Clinic. Their study, “Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences,” was…

Variants in the AEBP1 gene were identified as the cause of a form of Ehlers-Danlos syndrome in four people from three unrelated families, researchers report. The study, “Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome,” was published in the The…

A new study reveals a lack of awareness among health professionals and pregnant women with Ehlers-Danlos syndrome (EDS) about the condition and the risks associated with it, especially during pregnancy and birth. This lack of awareness could delay access to appropriate care, with detrimental effects for moms-to-be and their babies, according…