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 ...

Several guidelines have been developed for the diagnosis and management of Fabry disease. The focus of treatment is preserving organ function, maximizing quality of life, and normalizing life ...

In this episode of the Rare Care podcast, Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kfir Oved, PhD, about the latest Israeli research on myasthenia gravis (MG). Dr. Oved ...

Already approved in the United States and United Kingdom under the brand name Ekterly®, sebetralstat is now awaiting a final decision from the European Commission, expected by early October 2025.

Microscopic examination of the patient's fibroblasts after treatment revealed improved FXN levels. Antisense oligonucleotide (ASO) therapy appears to be a viable therapeutic alternative for Friedreich ...

Adding antioxidants such as Trolox, Resveratrosl, and MitoTempo to the cooling regimen boosted the protection, even at higher temperatures, including 26°C. Hair loss due to the rigorous chemotherapy ...

A central theme of the conference was the transformative potential of ropeginterferon alfa-2b, a long-acting, mono-pegylated interferon, across the MPN spectrum. The role of molecular mechanisms in ...

Intravenous immunoglobulin-induced thrombocytopenia was reported in 146 cases, with the highest incidence seen in patients with immune-mediated skin diseases. Intravenous immunoglobulin (IVIg) therapy ...

The levels of periaxin were significantly elevated in the plasma of patients with peripheral nervous system diseases like CIDP but not in the plasma of patients with central nervous system diseases or ...

The updated 2025 BSR management recommendations for patients with AAV provide systematic and evidence-based recommendations to support UK clinicians in managing AAV across the entire life course.

Kerrie Walters, who has MS, and her service dog, Wooldridge, at home in Grants Pass, Oregon (Credit: Jennifer Butler Photography) Kerrie Walters first heard of PoNS in a chance encounter with TV ...

In CIDP, SOC therapies (immunoglobulins/corticosteroids) are burdensome, have variable efficacy, and significant side-effects. Two phase 3 clinical trials, MOBILIZE ...