Principes fondamentaux et applications thérapeutiques de l'ingénierie des génomes

 

Yannick Doyon

Centre hospitalier de l'Université de Québec [CHUQ]

 

Domaine : génétique humaine

Programme Chercheurs-boursiers - Junior 2

Concours 2018-2019

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 led 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 by developing novel genome editing tools to precisely correct the mutations underlying the diseases. Ultimately, our work may lead to the development of novel therapeutics and significant improvements in quality of life for children and families affected by rare diseases.