Ongoing Research Projects

PRecIsion Medicine in CardiomyopathY (PRIMaCY)

Hypertrophic cardiomyopathy is the leading cause of sudden cardiac death in adolescents and young adults. Despite the availability of implantable cardioverter-defibrillators (ICD) as a life-saving intervention, the lack of precision in predicting sudden death risk hampers timely ICDs in at-risk patients resulting in deaths that could have been prevented.

PRIMaCY has developed an eHealth clinical decision support tool that generates an individualized 5-year risk prediction for sudden death for each patient. The primary goal is to implement the PRIMaCY tool in hospital information systems for use by physicians as a point of care tool, to evaluate the effectiveness of the tool in adherence to clinical practice guidelines, and to evaluate how it influences patient/family counseling.

PeRsOnalized Genomics For CongEnital HEart Disease (PROCEED)

Congenital heart disease (CHD) is the leading cause of newborn deaths. Its genetic cause remains elusive in 80% cases. We will use whole genome sequencing to explore the human genome to find gene defects that cause CHD – tetralogy of Fallot (TOF) and transposition of the great arteries (TGA), and determine how these gene defects predict severity of heart disease and outcomes.

The ability to individualize risk prediction based on genotype will help personalize reproductive counselling and help personalize management of CHD families. Genetic based prediction of outcomes can inform timing and type of fetal and postnatal interventions.


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January, 2020

The power of whole genome sequencing is allowing us to discover the genetic causes of disease on an unprecedented scale. But getting a blood sample on a patient can sometimes be difficult. We compared the quality of whole genome sequencing in DNA from blood versus saliva from patients with heart disease and showed that a saliva sample is usable for whole genome sequencing if collected and processed meticulously to give good quality DNA. This enabled us to reach out to patients and family members to provide a sample from home when they were unable to visit the hospital for a blood test, thereby allowing them to participate in genomics research. Our study also provides insights to genomic testing laboratories on the use of saliva samples for whole genome sequencing.

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December, 2019

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November, 2019

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July, 2019

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June, 2019

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Students & Trainees

Please note that due to COVID-19, we are not hiring students/trainees for summer 2020.

The Heart Centre Biobank provides an ideal training and learning environment for undergraduate, graduate, and postgraduate students. Students have exposure to a wide range of research activities including day-to-day operations of the Biobank, data collection, obtaining histories from families, reviewing intake questionnaires, medical records, and data entry. Students have an opportunity to develop and pursue projects within the larger framework of the Biobank, gather and analyze data for their project, and submit their results for presentation.

If you are interested in working or volunteering with the Biobank, you can look for opportunities through the Institute of Medical Sciences (IMS) Summer Undergraduate Research Program and the SickKids Summer Research Program (SSuRE).

We also place students at provincial expansion sites across the province, and encourage applicants from outside of the GTA.

If you are interested in a placement with the Heart Centre Biobank, please submit the following to prior to January 31st of the academic year to be considered for a summer/onward placement of the same year:

  1. Area of interest
  2. Cover Letter
  3. CV

Supported Studies

The Heart Centre Biobank is currently supporting many institutional, national and international studies. These studies will lead to customized treatment for individual patients, the development of regenerative therapies, new genetic screening tests, and newer and safer drugs for individuals with or at risk of heart disease.

Human iPS Stem Cell Consortium

In 2007 scientists discovered that you can take an individual’s skin cells, reprogram them into stem cells (iPS cells) and then change them into virtually any cell type in the body. These cells can be used for disease modeling, drug screening for toxicity and new drug development, as well as for rejection-free transplantation in the future. The Heart Centre Biobank holds the largest skin cell bank in congenital heart disease worldwide! The creation of a research sharing network between the world’s top leading stem cell scientists will help facilitate this science and lead to quicker discoveries. The Heart Centre Biobank along with the Ontario human iPS cell facility has partnered with the Gladstone Institute of Cardiovascular disease in California, USA as well as Kyoto University, Kyoto, Japan through the Ontario Personalized Human Stem Cell Initiative.

Institutional and Multi-institutional Studies
Genomic Variation in Human Cardiac Malformations

Seema Mital (PI), SickKids; Sarah Bowdin, Andrew Paterson, David Chitayat.

This study will identify the genetic etiology of cardiac malformations.

Genetic Determinants of Right Ventricular Remodeling in Tetralogy of Fallot (TOF)

Seema Mital (PI), SickKids; Luc Mertens (PI), SickKids; Andrew Redington, Brian McCrindle, Shi Joon Yoo

This study will identify the genetic variations that contribute to right ventricular remodelling and dysfunction in patients after surgical repair of TOF patients.

Cardiac Stem Cell Regulation in Congenital Heart Disease

John Coles (PI), SickKids

This study will identify the role of Integrin-linked kinase in hypertrophy signaling and stem cell regulation in patients with TOF and dilated cardiomyopathy.

Developmental Basis of Cardiac Malformations

Seema Mital (PI), SickKids; David Chitayat (PI), Patrick Shannon

This study will identify the pathways of cardiac growth during fetal life in patients with cardiac malformations.

Genomic Basis of Cardiac Malformations

Seema Mital (PI), SickKids; James Ellis, Gordon Keller

This study will develop pluripotent models of cardiovascular disease and study the effect of gene defects and environmental exposures on cardiac differentiation.

Analzying the Molecular Basis of Hypertrophic Cardiomyopathy

Benjamin Neel (PI), University Health Network

This study will use human stem cells and differentiate them into heart cells to investigate the normal cardiac development.

The Role of microRNA in Vascular Remodeling

Deepak Srivastava (PI), Gladstone Institute

This study seeks to view the expression of miRNA in pulmonary vein stenosis and reversing this stenosis from occuring.

Induced Pluripotent Stem Cells for Cardiovascular Research

Benoit Bruneau (PI), Gladstone Institute

This study grows cardiomyocytes from skin cells to study genetically defined heart disease in effort to better understand these disease processes.

High-throughput Sequencing to Identify Disease Causing Variants in Congenital Heart Disease

Seema Mital (PI), SickKids

To utilize novel and advanced technology to perform whole exome sequencing in children with familial CHD to identify gene defects or mutations that cause CHD and to expand this knowledge in the future to develop a genetic test that can be used for clinical screening in patients with CHD.

Clinical Assessment of Thrombosis in Children after Heart Surgery (CATCH Study)

Brian McCrindle (PI), SickKids

Thrombosis and hemorrhage are two important complications for children born with congenital heart disease. We wish to evaluate the association between genes and risk, response and resolution associated with thrombosis after cardiac surgery. These findings will help lead to a personalized approach to individualizing risk for treatment of thrombosis.

Biomarkers of Heart Failure in Adults with CHD: Towards Personalized Medicine

Peter Liu (PI), University Health Network

The goal of this project is to discover biomarkers, which can help diagnose cardiac dysfunction or heart failure in this unique complex and growing population. The biomarker candidates may also provide insight into the unique pathways that lead to heart failure in this patient population, and offer more personalized approach to diagnosis and therapy.

Novel approaches to the prediction, diagnosis and treatment of cardiac late effects in survivors of childhood cancer

Paul Nathan (PI), Luc Mertens (PI), Seema Mital (PI, Genetics Core); SickKids

To identify genetic predictors of susceptibility to anthracycline and radiation-induced cardiac toxicity. Synthesis of imaging, biomarker and genetic findings will allow for the identification of those at greatest risk for developing clinically significant cardiac toxicity as a consequence of their cancer therapy.

Exome sequencing to identify mutations in a cohort of patients with CMP and right-sided structural heart defects

Sarah Bowdin (PI), SickKids

This study plans to look at the genetic information of individuals with cardiomyopathies and right-sided structural heart defects. This study will increase the understanding of why some children and adult have a greater risk for cardiomyopathy then others.

Biologic Determinants of Right Ventricular Remodeling in Tetralogy of Fallot

Seema Mital (PI), SickKids

Despite surgical repair, patients with tetralogy of Fallot develop progressive leaking of the pulmonary valve with development of right ventricular dilation and dysfunction. The genetic cause of this is not known. This study will identify the genes that contribute to progressive RV dysfunction after surgical repair of TOF. The findings will help with the early identification of individuals at risk for RV problems later in life so that interventions can be done sooner.

Patterns and clinical significance of electro-mechanical dysynchrony in pediatric dilated cardiomyopathy

Mark Friedberg (PI), SickKids

The goal of this study is to address the current deficits in our knowledge and understanding of electro-mechanical dyssyncynchrony in childhood DCM so that it may be possible if some children have the electrical and mechanical substrate for resynchronization and therefore benefit from new therapies.

Regulatory Map of the Human Cardiac Genome

Michael Wilson (PI), SickKids

The goal of this study is to enhance our knowledge of the regions of the human genome that function to regulate the genes essential for healthy cardiac function.

Regulatory Variants in Thrombosis

Michael Wilson (PI), SickKids

Identifying pathological alterations in human regulatory DNA will lead to new diagnostic tools for pediatric diseases and address outstanding questions in human gene regulation and epigenetics.

Genetics and Pharmacogenetics of systemic hypertension after transplantation

Seema Mital (PI), SickKids

This study will analyze genetic factors that influence the response to anti-hypertensive medications after cardiac transplantation.

Impact of Pathophysiology on Clinical Outcome in Patients with Congenital Heart Disease who Undergo Cardiac Surgery

John Coles (PI), SickKids

The aim of the study is to investigate pathophysiology as well as surgical outcome to gain a greater understanding of the the mechanism of congenital heart diseases.

Genomic Variations in Childhood Onset Heart Disorders

Gordon Keller (PI), Peter Liu (PI), Seema Mital (Co-Inv), University Health Network, SickKids

International Multi-Institutional Studies
Genome-wide Association Study of Congenital Heart Disease

Bernard Keavney (PI), Judith Goodship (Co-Inv), Heather Cordell (Co-Inv), Newcastle, UK

This international project which look into a large number of individuals with congenital heart disease and look throughout the human genome for common variation that may be associated with risk of CHD. The goal is to discover factors that predispose families to a risk of CHD with hopes of in the future identifying new preventive measures.

Genetic causes of Congenital Heart Disease

Matthew Hurles (PI), Wellcome Trust Institute, UK

While Down syndrome accounts for roughly 50% of cases of AVSD, the genetic basis of non-Downs AVSD is not known. DNA from these patients will be sequenced to identify gene defects using advanced sequencing techniques. This knowledge will be useful in genetic and reproductive counseling in the long term and in better understanding of the pathways that cause CHD.