Hereditary angioedema (HAE) is a rare genetic disease characterized by recurrent episodes of severe swelling affecting the skin, digestive system, or respiratory tract. Although the genetic basis of the disease is now better understood, the precise molecular mechanisms triggering these attacks remain poorly characterized.
This project employs an innovative metabolomics approach-the large-scale study of small molecules in biological systems-to explore the biochemical alterations associated with HAE. By analyzing participants' metabolomic profiles, the aim is to identify specific biomarkers that could facilitate disease diagnosis and predict its progression.