The study highlights the benefits a robust genetic testing program can have, which ultimately has the potential to improve outcomes ATTRv is caused by more than 130 known mutations in the TTR gene and ...

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 ...

Momelotinib treatment leads to clear clinical benefits in patients with myelofibrosis (MF), according to results from a real-world study. Rare Disease Advisor, a trusted source of medical news and ...

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 ...

Rituximab was linked to nearly triple the risk of hypogammaglobulinemia in the discovery cohort and a nearly 5-fold higher risk in the larger validation cohort. Patients with multiple sclerosis (MS) ...

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 ...

Suggestions for improving the questionnaire included simplifying the language and adding visuals, but overall, the tool was well understood and accepted. A new study has found the Hemophilia Device ...

Seventeen of the 22 ultimately diagnosed with cMCD had relatively low basal serum tryptase, and 64% initially tested negative for peripheral blood KIT p.D816V. SM is a rare disorder involving the ...

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 ...

Elizabeth Hsia, MD, MSCE, speaks at the 2025 International Society of Ultrasound in Obstetrics and Gynecology World Congress (Photo by Brian Murphy PhD) For neonates with HDFN who received postnatal ...