Développement de thérapies pour les maladies métaboliques rares de l'enfant par correction génique in vivo et étude des mécanismes de réparation de l'ADN

 

Yannick Doyon

Centre de recherche du Centre hospitalier de l'Université Laval

 

Domaine : génétique humaine

Programme chercheurs-boursiers Junior 1

Concours 2014-2015

Genetic disorders of children are individually rare but collectively frequent, affecting the lives of approximately 500,000 children in Canada. They often are serious, life threatening or fatal, but because each rare disease affects are relatively small population few treatments have been developed.  Efforts by national and international groups such as the Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE) and the International Rare Disease Research Consortium (IRDiRC) are uncovering disease-causing genes that could be corrected through genetic therapies.  

In recent years, technological innovations lead to the successful treatment of retinal disorders and haemophilia by supplying a good working copy of the defective gene.  Similar novel treatments are currently in clinical trials for a variety of diseases. Our research aims to expand the potential of these therapeutic approaches and may lead to significant improvements in quality of life for children affected by rare diseases.