Comprehensive genomic analysis of patients with congenital heart disease

Principal Investigator: Gregor Andelfinger
Theme : Health
Competition : Genomics research in human health - general stream
Status : Completed
Start : Oct. 1, 2010
End: Sept. 30, 2014
Budget : $1,288,205.00

Congenital heart disease is the most common malformation at birth. Despite excellent diagnostic tools and impressive advances in corrective surgery, current concepts for the treatment of disease are still based on a description of malformed anatomy rather than basic understanding of the causes of disease. Two important groups of this disease are obstructions of the left heart and tetralogy of Fallot, both of which have a wide range in severity and treatment results over the long run. As an example, obstructions of the left heart will often lead to open heart surgery at a young age, and tetralogy of Fallot can cause troubles of the heart rhythm requiring the implantation of a pacemaker-defibrillator device into the patient’s body.

This project aims to prove that mutations in the human genome are the main causes of both diseases. Dr. Andelfinger and his team will make extensive use of novel sequencing technologies for deciphering the genome at unprecedented detail and speed. The results of this project have the potential to identify the real causes for obstructions of the left heart and tetralogy of Fallot.



Philip Awadalla CHU Sainte Justine
Philippe Chetaille CHUL Research Center
Béatrice Godard Université de Montréal
Paul Khairy Montreal Heart Institute
Mark Samuels CHU Sainte Justine