I haven’t seen a pulmonologist in 5 years, and I would highly recommend that anyone with Pompe disease make it a priority. Rare Disease Advisor, a trusted source of medical news and feature content ...

Researchers recently detailed the genetic and clinical features of congenital protein-losing enteropathy (PLE), with a focus on CHAPLE disease.

Test Your Knowledge About the Genetics of Chronic Lymphocytic Leukemia Test Your Knowledge About the Prognosis of Chronic Lymphocytic Leukemia Test Your Knowledge About the Diagnosis of Chronic ...

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 ...

Dentists should be aware that manifestations of hereditary angioedema may be triggered by certain dental procedures. A boy who presented for dental treatment experienced periorbital and facial ...

Patients with IgG4-related disease exhibited a distinct platelet activation profile, with 22 platelet-specific genes significantly altered. Patients with immunoglobulin G4-related disease (IgG4-RD) ...

From left: Samantha Masterson, president and CEO of the Myasthenia Gravis Foundation of America (MGFA); Angela Vincent, MBBS, winner of the MGFA’s first Lifetime Achievement Award; and Kevin O’Connor, ...

If approved, CAM2029 could offer a self-administered alternative to intramuscular long-acting somatostatin analogs, with the potential to reduce treatment burden. The US Food and Drug Administration ...

Carolina Barnett-Tapia, MD, PhD, is an associate professor of neurology at the University of Toronto. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Carolina Barnett-Tapia, MD ...

Current PROMs used in AATD reflect the COPD aspect of the disease but fail to address the extra-pulmonary issues these patients face. A more discriminative and comprehensive patient-reported outcome ...

Further research is needed to establish if there is a causative link between avacopan and liver injury. A patient with microscopic polyangiitis (MPA)—a form of antineutrophil cytoplasmic antibody ...

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 ...