A single treatment with a CRISPR-Cas9 based gene editing therapy is enough to replace the daily medication of patients with hereditary angioedema (HAE), a condition characterized by severe, painful ...

Hereditary angioedema (HAE) is a rare, autosomal dominant disorder defined by episodic, potentially life‐threatening swellings that can affect the skin, gastrointestinal tract, and upper airways.

This Review reports on a series of recent discoveries that have added to the characterization of the molecular and cellular basis of primary immunodeficiencies (PIDs) in humans. A total of more than ...

Philadelphia and Gordonville, PA, August 12, 2025 – Researchers from Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ...

Researchers from Children's Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause ...

In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's ...

KING OF PRUSSIA, Pa., Nov. 19, 2020 /PRNewswire/ -- CSL Behring, a global biotherapeutics leader, today announced survey results showing that a vast majority of HAE patients (94%) say it's important ...