A dozen new mutations in the SERPING1 gene were identified in Slovakia as the cause of hereditary angioedema (HAE) due to C1-inhibitor deficiency or dysfunction — known as C1-INH-HAE — according to a new study based on a complex analysis. That genetic analysis also suggested that the prevalence of…

In a 39-year-old man in France, hereditary angioedema (HAE) manifested with stroke-like symptoms, including weakness on one side of the body and difficulty speaking, despite treatment with danazol, a medication normally used to prevent HAE attacks. His symptoms eventually resolved with Takhzyro (lanadelumab), an approved therapy for…

A new mutation in the SERPING1 gene linked to hereditary angioedema (HAE) type 1 was identified in three of five members of a Spanish family. Results were published in a letter to the editor of the journal Pediatric Allergy and Immunology titled “Hereditary angioedema caused by a novel intronic variant of SERPING1.” HAE is a form of…

CAMP4 Therapeutics’ platform that targets a class of RNA known as regulatory RNAs, or regRNAs, can improve the activity of the gene that is defective in most cases of hereditary angioedema (HAE). That is according to new preclinical data shared by scientists from CAMP4 at the 17th Annual…

Japanese researchers have identified a new mutation in the SERPING1 gene linked to hereditary angioedema (HAE) in a 27-year-old woman with a history of recurrent swelling attacks. Her case was described in a report, “Hereditary angioedema with a novel mutation, c.1481G>C, in the SERPING1 gene,” published…

Researchers have developed a more cost-effective supporting diagnostic test for hereditary angioedema (HAE) to detect genetic changes that are otherwise missed by current standard methods. The study, “Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian…