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Genetics & Genome Biology

686 Bay St, Toronto, ON M5G 0A4
Rosa Freire, Program Manager

Using innovative sequencing and disease modeling technologies, we aim to determine the role genes play in paediatric health.

Led by program head Dr. Monica Justice, the Genetics & Genome Biology (GGB) program use genetics and genomics to understand human health and disease, as well as genetic and environmental influences on disease risk. The team translates that knowledge to improve child health through treatment or prevention strategies. 

$166,700,000M research funding brought in by GGB (2013-2018)

1,464 manuscripts published in the past five years

300 publications featuring GGB researchers

75%+ faculty papers have an h-index of ≥20

Research team

GGB is recognized by external reviewers for its influential research that has led to scientific advancements, most notably the analysis of whole genome sequence data and the analysis of genomic structural variation and its consequences. The program has received many awards, and continues to publish studies in top journals, such as Nature, Nature Genetics, The American Journal of Human Genetics, Science, Molecular Cell, and The Journal of Clinical Investigation.

GGB is a collaborative community always interested in recruiting talented people from all educational backgrounds and academic levels. Working with the SickKids Research Training Centre, both students and fellows can receive exceptional training and real hands-on experience from world renown scientists.

Adam Shlien

Senior Scientist, Genetics & Genome Biology

Ajoy Vincent

Staff Ophthalmologist, Department of Ophthalmology and Vision Sciences

Andreas Schulze

Medical Director, Newborn Screening Program, Department of Paediatrics

Andrew Paterson

Co-director of Statistical Analysis Facility at The Centre for Applied Genomics

Anna Goldenberg

Senior Scientist, Genetics and Genome Biology

Christopher Pearson

Senior Scientist, Genetics & Genome Biology

David Malkin

Senior Staff Oncologist, Division of Haematology/Oncology

Elise Heon

Staff Director, Ocular Genetics Program, Department of Ophthalmology and Vision Sciences

Eric Campos

Scientist, Genetics & Genome Biology

George Yousef

Chief, Department of Paediatric Laboratory Medicine

Gregory Costain

Staff Physician, Division of Clinical and Metabolic Genetics

Jacob Vorstman

Child and Adolescent Psychiatrist, Department of Psychiatry

  • Dr. Johanna Rommens (Senior Scientist Emeritus)
  • Dr. Ingrid Tein (Senior Associate Scientist Emeritus)

  • Dr. Paul Arnold
  • Dr. Michael Brudno
  • Dr. Lap-Chee Tsui

  • Karin Aguilar, M.Sc
  • Meghan Bradley
  • Elaine C. Chang
  • Emma Mac Donald
  • Natalie Sun, M.Sc
  • Catherine Tan
  • Darvy Teav
  • Shiva Yaghini

Awards and achievements

Many GGB faculty hold endowed or research chairs. The Canada Research Chair program is designed to attract and retain some of the world’s most accomplished and promising minds by paying a large portion of their salary. Chairholders aim to achieve research excellence in engineering and the natural sciences, health sciences, humanities, or social sciences. An endowed chair provides a SickKids' Foundation Endowment with an annual payout that recognizes high achievement by individual faculty. 

In Canadian Institutes of Health Research (CIHR) competitions for Foundation Scheme and Project funding, GGB members have consistently exceeded the success rates nationally. Drs. Stephen Scherer, Monica Justice and David Malkin hold CIHR Foundation Scheme grants.


We're proud to work alongside top researchers and staff at SickKids and across the country.

Revolutionizing genetics and genome biology research

Next-gen sequencing tools have revolutionized our understanding of disease and approaches to science. Advances in gene discovery via sequencing have set the stage for genetic diagnosis for the majority of SickKids' patients.

Through sequencing, our researchers have discovered the similarities and differences in genomes, how genetic variation leads to morphological or physiological differences, and how disease develops. A second genetic revolution, CRISPR-Cas9 genome editing, is being used by researchers to model disease mutations, understand functional outcomes, and develop treatment strategies.

SickKids continues to lead in the discovery of genes involved in human diseases. We develop methods to understand the genome and disease by leading the world in the analysis of the whole genome sequence, and by developing approaches to understand the role of unusual variants in coding and non-coding genomes.

Genome organization plays a role in DNA integrity and gene expression, in part through interactions with proteins and RNA. Geneticists in GGB study the role of DNA methylation and chromatin dynamics in disease. Members are developing tools to diagnose and treat diseases that involve DNA methylation, replication, and repair.

GGB researchers dissect the molecular mechanisms for diseases using patient information or cell-and organismal-models. Networks and pathways are analysed to inform treatment strategies.

The availability of large datasets and the need to integrate patient sequence and phenotype data into everyday practice has brought about a need to apply computer and statistical analysis to health and disease. Members of GGB are developing platforms that can predict disease risk, responses to drugs or therapies, and help physicians integrate data into patient care.

Our ultimate goal is to identify, translate and implement therapies for patients with genetic disease. The genome editing revolution has brought the treatment of genetic diseases to the forefront of translational medicine. GGB researchers develop gene-based treatments for disease, and use genetic information to predict therapies.

Genetic breakthroughs

The world-class, high-impact research conducted by the program’s scientists has led to novel therapies in children’s health-care through diagnosing rare and common illnesses, understanding cancer risk, and identifying the mechanism for disease development. A combination of genetic analyses, genomic and bioinformatics platforms, preclinical models, and ‘big data’ are regularly used to study genetic and epigenetic contributions to monogenic and complex diseases.Clinical and basic researchers in GGB partner with colleagues at SickKids, nationally and internationally to translate genetic findings to the clinic, and adapt genetic knowledge to treatment.  

These are just a handful of the major breakthroughs credited to our SickKids researchers. 

Positioning SickKids as world leaders in genome sequencing

Dr. Stephen Scherer, Director of TCAG, was recognized in 2014 as a Thompson Reuters Citation Laureate, in part for citations of a classic paper revealing the contribution of copy number variation to disease. His internationally recognized research program continues to reveal many new genetic and functional targets in Autism Spectrum Disorders (ASD) that may lead to connected pathways.  

Dr. Scherer also heads the University’s McLaughlin Centre for Molecular Medicine, whose key goal is to advance genomic medicine through research and education. The McLaughlin Centre is a major supporter of the MSSNG database, which includes 10,000 whole genome sequences from affected ASD individuals and their families. He ensures that Canada leads world-wide in sequencing approaches and technology by spear heading cutting edge initiatives such as hosting "Genes in the Cloud" with Google.

Analyzing 80,000 individual tumours to understand behaviours

By analyzing the genomes from more than 80,000 individual tumours of multiple tissue types, the powerful collaborating team of Drs. David Malkin, Uri Tabori, and Adam Shlien identified a hypermutant molecular signature that informs how the tumour will behave.  

The hypermutant signature occurs in 17 per cent of adult and 10 per cent of paediatric cancers across all tissue origins, suggesting for the first time that cancer type not tissue of origin is important for informing therapies. Thus, certain drugs will target specific hypermutant tumour types, while the tumour’s molecular signature can reveal which drugs should be avoided. 

Improving care through machine learning and A.I.

Dr. Anna Goldenberg and her team have worked alongside SickKids clinicians to find novel ways of examining medical problems through machine learning.

Using high-performance computing, new mathematical paradigms, and the large amounts of available data, the team uses Artificial Intelligence to develop and test predictive algorithms that harness data to identify solutions for better care. For example, Dr. Goldenberg is using A.I. to merge different types of genomic data to predict disease outcome, to improve resource use in the emergency room, prevent cardiac arrest in critical care patients, and assess if young patients at high cancer risk will benefit from invasive screening. 

Innovating genome editing strategies for muscle diseases

Dr. Ronald Cohn's lab has been a leader in genome editing strategies for muscle diseases. Using mouse models of laminopathies and muscular dystrophy, the lab has developed and tested innovative genome editing strategies that either remove a detrimental exon or up-regulate a related, complementing gene for disease treatment. 

The first discovery of repeat expansion disease treatments

Dr. Christopher Pearson’s lab focuses on understanding the disease-causing properties of trinucleotide repeat expansions in many diseases, including ALS, Huntington’s and myotonic dystrophy.

His lab uses DNA repair/replication systems in human cells, human cell extracts or human recombinant proteins, and disease-relevant animal models to identify and test disease treatments. Such studies are crucial toward attaining his long-term goal of preventing or reversing repeat expansions in patients. His work has led to the discovery of a treatment for diseases caused by repeat expansion, which has garnered much industry attention. 

Exploring environmental influences in autoimmune disease

Both genetic and environmental factors contribute to an individual's susceptibility to autoimmune disease, but specific environmental influences are not well characterized.

Dr. Jayne Danska explored how the gut microbiota influenced susceptibility to type 1 diabetes in mice. In the non-obese diabetic (NOD) mouse model of type 1 diabetes, female mice are significantly more susceptible to disease than males; however, this difference was not apparent under germ-free conditions. Transfer of cecal contents from male mice to female mice prior to disease onset protected against pancreatic islet inflammation, autoantibody production, and the development of diabetes, and was associated with increased testosterone in female mice. That means the microbiota may be able to regulate sex hormones and influence an individual's susceptibility to autoimmunity. 

Stay updated

Outline of a brain showing web of lines.

January 19, 2022

Researchers uncover new leukemia cell invasion pathway into central nervous system

A route by which leukemia cells enter the central nervous system discovered by SickKids and UHN researchers offers new insights that could lead to more targeted treatment options for acute lymphoblastic leukemia.

Graphic showing a brain and DNA with a hexagonal pattern overlaid.

December 9, 2021

New precision medicine scoring system evaluates whether genes are related to autism spectrum disorder

EAGLE allows for a more precise evaluation of a gene’s relevance to ASD specifically, based on quality of phenotypic and genotypic evidence, and is now publicly available to researchers and clinicians on SFARI Gene.

November 10, 2021

Canada must be ready to transition into new era of genomic medicine

SickKids clinicians and scientists call for a national, coordinated strategy on genomic medicine to support adoption of genome sequencing as a standard-of-care diagnostic test.

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Contact GGB

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