Patricia Inácio, PhD, science writer —

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…

More than half of patients with Ehlers–Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD) use complementary alternative therapies to manage pain, according to the results of a survey. Opioids, physical therapy, and marijuana were rated by the participants as extremely helpful to manage chronic and severe pain. The study…

Patients with classical-like Ehlers-Danlos syndrome (EDS) due to tenascin-X deficiency, a rare form of EDS, are at risk for tissue fragility especially in the gastrointestinal tract, a study has found. The study, “Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Patients with mutations in either the COL1A1 or COL1A2 genes, which provide instructions for making a specific collagen protein, may show symptoms of both Ehlers-Danlos syndrome (EDS) and osteogenesis imperfecta (brittle bone disease), a retrospective study shows. Researchers propose that this overlap is a missing EDS type. The study ”…

Routine heart tests and echocardiography — a non-invasive test that uses sound waves to create moving pictures of the heart — may not be necessary for patients with hypermobile Ehlers-Danlos syndrome (hEDS) who have no family history of heart problems, a small study reports. The study, “Utilization of echocardiography in Ehlers‐Danlos syndrome,”…

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-…

Psychiatric disorders, namely depression, may affect almost half of patients with Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). Also, mental health problems may be associated with pain and gastrointestinal dysfunction in these patients, a study shows. These findings, researchers contend, support the need to screen for mental health…

Evaluation of the ability of a person to move his or her shoulder with an upward arm movement could help demonstrate joint hypermobility associated with Ehlers-Danlos syndrome (EDS), a study suggests. The study, “Gleno-humeral abduction measurement in patients with ehlers-danlos syndrome,” was published in the journal…