Our research focusses on genomics, pharmacogenomics and stem cell applications in childhood heart disease. In 2015, we launched the Cardiac Precision Medicine Program focussed on precision medicine approaches for childhood onset heart disease. This includes the study of DNA using next-generation sequencing, and tissue and patient-derived induced pluripotent stem cells (iPSCs) in patients with congenital cardiac malformations and cardiomyopathies.
The goals are to identify gene defects that cause heart disease in children, identify the influence of genetic variations on disease severity and outcomes, and apply this knowledge to inform the clinical care of children with heart disease and discovery of new therapies for pediatric heart failure. An equally important goal is to study gene-environment interactions in causing heart disease. The approach to research is translational and includes clinical and basic research methodologies to answer these questions.
We have launched several large collaborative efforts to meet these goals.
Heart Centre Biobank Registry – The heart centre biobank is a multi-centre research network which has resulted in the establishment of the first Ontario province-wide biorepository and registry of patients with congenital and other forms of heart disease.
Ted Rogers Centre for Heart Research – With the goal to significantly reduce heart failure in Canada over the next decade and beyond, The Hospital for Sick Children (SickKids), University Health Network (UHN) and the University of Toronto (U of T) announced the creation of the Ted Rogers Centre for Heart Research on November 20, 2014.
Canadian National Transplant Research Program – The Canadian National Transplant Research Program (CNTRP) is a national research network designed to increase organ and tissue donation in Canada and enhance the survival and quality of life of Canadians who receive transplants.
PROCEED – PeRsOnalized Genomics For CongEniTal HEart Disease- This newly launched study with European partners are combining biobank populations of patients with tetralogy of Fallot and transposition of the great arteries from Canada, Germany and the Netherlands with the goal of developing tools to allow rapid analysis of whole genomes in these populations to find the underlying genetic cause.
PRIMaCY – Precision Medicine in CardiomyopathY – The sudden loss of a child or young adult is a devastating burden on a family. Patients with hypertrophic cardiomyopathy (HCM) are at risk for sudden death. Sudden death can be averted with the insertion of a device called an implantable cardioverter defibrillator (ICD). At this time, we cannot accurately predict who is at high risk for sudden death. This results in failure to provide an ICD in a timely manner. Through a network of 21 participating centres, we developed a prediction tool that uses clinical and genetic information to determine which child is at high risk and needs an ICD. This calculator allows cardiologists to make precise risk calculations for their patients while in clinic and offer timely recommendations, preventing an adverse series of events that no family should have to endure.
MIBAVA – Mechanistic Interrogation of Bicuspid Aortic Valve associated Aortopathy. The MIBAVA network is a research network program established to identify factors that affect the clinical outcome of patients with BAV, with particular attention to the progression of aortic aneurysm.
PCS2 – Preventing Cardiac Sequelae in Paediatric Cancer Survivors – This is a multi-centre observational cohort study addressing the current limitations in prediction and early diagnosis of anthracycline-induced heart disease using studies based on biomarkers, genomics and cardiac imaging.
