Description

Hereditary angioedema (HAE) is a rare genetic disease characterized by recurrent episodes of severe swelling affecting the skin, the digestive system or the airways. Although the genetic basis of the disease is better understood, the precise molecular mechanisms that trigger these episodes remain poorly known. This project uses the innovative approach of metabolomics - the large-scale study of small molecules in biological systems - in order to explore the biochemical alterations associated with HAE. By analyzing the metabolomic profiles of participants, the objective is to identify specific biomarkers that could support the diagnosis of the disease and the prediction of its course.

Eligibility

Users with identified angioedema

Objective

Understand and improve outcomes for angioedema.

Expected outcomes

  • Identification of a novel biomarker profile