Research Activities

The significance of genetic analysis of the C1 inhibitor (C1-INH) gene

  1. The most definitive diagnosis
  2. Effective at diagnosing individuals with no family history and individuals with no obvious signs
    (25% of HAE cases are sporadic)
    (C1q levels help little to differentiate hereditary and acquired angioedema)
  3. Helps with early diagnosis of children prior to onset -> Allows preparations to deal with episodes
    (Baseline levels of C1 inhibitor activity in infants have yet to be established)
  4. There is no database for Japanese or for the Asian region

Sites of mutations in the C1 inhibitor (C1-INH) gene in Japanese individuals with HAE

(Red arrows indicate sites identified by this research group)

Geographic distribution of patients

Steps in analysis


Research publications and presentations