This is the first report from SveATTR— a longitudinal Swedish web-based registry open for TTR variant carriers and patients with ATTR amyloidosis. The study summarizes 60 years of data collected as ...

The chronic use of a TGF-β-targeting phosphorodiamidate morpholino oligomer (PMO) and dystrophin exon-skipping PMO reduced muscle fibrosis and loss, restored dystrophin expression in skeletal and ...

Feature importance analysis using Shapley additive explanations values identified right atrial (RA) and PA volumes as the most influential features for the new model. A novel, fully automated random ...

The consequences of cystic fibrosis (CF) are extensive and affect almost every organ system. The clinical picture is broad and may present with acute or chronic manifestations. Gastrointestinal and ...

The average telomere loss in patients with SSc was approximately 223 base pairs per year, compared with 30-60 pairs per year in normal aging. Shortened peripheral blood leukocyte telomere length ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Eventually, I will run into a doctor who has never heard of Pompe and wants all the information about it from me. Rare Disease Advisor, a trusted source of medical news and feature content for ...

The majority (90%) of neurologists were aware of 40 out of 61 recommendations on the treatment of myasthenia gravis (MG). Most Spanish neurologists know, agree on, and apply guidelines for the ...

Patients who live with rare conditions have specialty care teams. You have a primary doctor, and you have other doctors who specialize in the care you need based on your condition. I have Pompe ...

RN3271 showed deep and durable effects in reducing TTR protein with a favorable safety profile. MINNEAPOLIS— RN3271, a novel GalNAc-conjugated siRNA designed to silence transthyretin (TTR) expression ...

Dutch obstetrician Monique Haak, MD, demonstrates ultrasound techniques at ISUOG 2025 in Cancún, Mexico. (Photo by Larry Luxner) Congenital heart disease is the most common deformity in fetuses, yet ...

Over 52 weeks, treprostinil was superior to placebo in absolute FVC by 95.6 mL from baseline, regardless of background therapy, smoking status, or supplemental oxygen use. United Therapeutics ...