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 ...

TWO inborn errors of the complement system of man have been well documented: hereditary deficiency of the serum inhibitor of the activated first component of complement (C′1a) and hereditary ...

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 ...

At the recent ObesityWeek ® Interactive 2020 meeting, researchers discussed the investigational agent setmelanotide and it's potential to treat two rare genetic diseases that cause insatiable hunger ...