Patients with Fabry disease appear to have a higher incidence of renal cell carcinoma than the general population, according to a recently published study in Molecular Genetics and Metabolism. “The ...

Updated guidelines for managing patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) from the British Society for Rheumatology (BSR) were published recently in ...

A CRISPR/Cas9-modified Janus kinase 2 (JAK2) V617F model may be useful to develop new therapies against myeloproliferative neoplasms (MPNs), showed a new study published in the International Journal ...

There is significant variability in terms of management practices across Canadian medical centers in terms of red blood cell (RBC) and platelet transfusions in preterm newborns, according to a study ...

Caregivers and healthcare providers of patients with hemophilia both expressed unmet needs regarding information provision, a problem that may be remedied by using digital information platforms, ...

Researchers from Brazil developed a new clinical score to estimate the probability of neuromyelitis optica spectrum disorder (NMOSD) in patients presenting with optic neuritis. The easily accessible ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews former college basketball player Dan Lier, a partner with the nonprofit group Somebody To Talk To, about his new “Rare Disease ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Antonella Favit-Van Pelt, MD, PhD, chief medical officer at Helius Medical, on the potential of neuromodulation to treat people ...

In patients with suspected IgG4-RD, a diagnosis typically takes some time, involving physical examination, imaging, laboratory testing, and pathology. The tumefactive lesions that are the hallmark of ...

Patients with the PiZZ genetic form of alpha-1 antitrypsin deficiency (AATD) have more aggressive disease and loss of function than individuals with the PiSZ form, according to results published in ...

Researchers have identified a set of microRNAs (miRNAs) that may serve as biomarkers for diagnosing granulomatosis with polyangiitis (GPA), a form of antineutrophil cytoplasmic antibody ...

Enrollment is under way to recruit patients for a phase 3 study designed to assess intravascular (IV) treatment with zaltenibart among individuals with paroxysmal nocturnal hemoglobinuria (PNH), ...