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 ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated neuromuscular disorder affecting the peripheral nervous system. CIDP is characterized by gradual sensory loss and muscle ...

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 ...

The use of semaglutide has been associated with improvement of treatment-resistant mast cell activation symptoms in an overweight patient with SM. Glucagon-like peptide-1 receptor agonists (GLP-1RAs) ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Albert Faro, MD, vice president for clinical affairs at the Cystic Fibrosis Foundation (CFF). Dr. Faro speaks about COVID-19’s ...

Pompe disease will always be a form of muscular dystrophy that deteriorates the muscles throughout the body causing muscle weakness. The science of it will never change, but the treatment is something ...

Taylor Kane is executive director of Remember the Girls, a nonprofit group that advocates on behalf of females with X-linked disorders (Photo courtesy of Taylor Kane) New Jersey native Taylor Kane ...

Z-rostudirsen is designed to enable production of near full-length dystrophin in both muscle and the central nervous system, unlike similar therapies that target muscle alone. Dyne Therapeutics has ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

All NORD-designated Centers of Excellence meet rigorous benchmarks for multidisciplinary expertise, patient education, clinician training, and active engagement in research. The National Organization ...

When tested on Investigational New Drug products (n=7), both complement-dependent hemolysis and monocyte monolayer assays effectively detected elevated hemolytic activity. The Food and Drug ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Miller, MD, a professor of pediatric endocrinology at the University of Florida in Gainesville who specializes in ...