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 ...

Generalized pustular psoriasis (GPP) is a rare, severe form of psoriasis characterized by the acute onset of eruptions of sterile pus-filled skin lesions and rashes with or without systemic ...

From landmark gene therapy approvals to illuminating discoveries into the pathogenesis of rare diseases, 2023 saw substantive advances in rare disease diagnosis and treatment. The following list of ...

Coramitug is well tolerated and leads to a statistically significant reduction in N-terminal pro-brain type natriuretic peptide (NT-proBNP)—a marker of disease progression in transthyretin-mediated ...

A pattern recognition approach takes into account factors like disease progression rate, whether the disease symptoms are symmetrical or asymmetrical, whether they are predominantly distal or proximal ...

Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...

The Stride Velocity 95th Centile (SV95C) showed sensitivity to a decline in the ability to walk over short intervals in patients with Duchenne muscular dystrophy (DMD), according to a new study ...

Jennifer Miller, MD, a professor of pediatric endocrinology, speaks about her research on Prader-Willi syndrome from her office at the University of Florida in Gainesville. (Photo by Larry Luxner) ...

Analysis of clinical characteristics revealed that higher initial D-dimer levels correlated with advanced Ann Arbor stage, presence of B symptoms, and higher International Prognostic Index scores.

Ruxolitinib exerts its activity independently of oncogenic Janus kinase 2 (JAK2)-V617F signaling in myeloproliferative neoplasms (MPNs) like myelofibrosis (MF), according to a new study published in ...

In classical PNH, disease is present with the absence of bone marrow disease. 3 Patients with classical PNH typically have severe intravascular hemolysis along with an elevated reticulocyte count, a ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...