Hereditary angioedema (HAE) is a rare genetically transmitted disease that affects approximately 1/50,000 people in Quebec. It is characterized by the occurrence of edema of the skin and mucous membranes, disfiguring the face. These edemas are painful (hand, feet, genital areas) and sometimes dangerous (tongue, larynx). The disease is caused by a mutation in the gene encoding the C1 complement inhibitor (C1-inh). Its usual treatment consists of the intravenous or subcutaneous administration of C1-inh concentrate, 2-3 times a week. The annual costs of the treatment are staggering per subject. There is another form of this condition unrelated to a C1-inh problem for which no diagnostic test is available. This absence of a diagnostic tool leads subjects to have an erroneous diagnosis and inadequate treatment. The objective of this project is to develop an accurate diagnostic tool based on genome sequencing and the study of blood plasma of subjects with HAE not related to a C1-inh problem. Such a diagnostic tool would allow a significant reduction in medical consultations, unnecessary biological tests, and to guide towards a more effective treatment that would improve the quality of life.
Genome Centre: Génome Québec
User:
| Emmanuelle | Lemyre | Optilab Montréal CHU Sainte-Justine |