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Genetics & Genome Biology

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

Led by program head Dr. Jason Moffat, 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

We are hiring! Apply to join our team as a Scientist or Senior Scientist, Microbiome of Early Life 

The Research Institute is seeking an outstanding Scientist (equivalent to Assistant Professor) or Senior Scientist (equivalent to Associate or full Professor) who is committed to research on the role of the microbiome in early life health and disease. The position is permanent full-time and will include an accompanying appointment in a relevant department at the University of Toronto.

The successful candidate will be appointed as a Scientist or Senior Scientist in one of the seven research programs in the SickKids Research Institute which best complements their area of expertise. The successful candidate will be expected to qualify for an academic cross-appointment as an Assistant Professor, Associate Professor or Full Professor in an appropriate department at the University of Toronto. Salary will be commensurate with qualifications and experience. A competitive benefits package is being offered along with support for relocation expenses. Exceptional, appropriately qualified candidates may be nominated for a Canada Research Chair

Learn more and apply today by visiting SickKids Career Page and search Job ID 16628 

We are hiring! Apply to join our team as an Associate Professor/Professor 

The Faculty of Medicine at the University of Toronto and The Hospital for Sick Children (SickKids) Research Institute invites applications for a full-time position in research on the role of the microbiome in early life health and disease. The appointment will be at the rank of Associate Professor or Professor, with an expected start date between October 14, 2022, and Spring 2024.

Successful candidates may also be nominated for a Canada Excellence Research Chair  in the early life microbiome research, valued at $1M per year for eight years. The CERC program is intended to support world‑renowned researchers and their teams in establishing ambitious research programs at Canadian universities. Nominees to the CERC opportunity will be internationally leading researchers whose proposed research program aligns with one or more of the Government of Canada’s Science, Technology and Innovation priority areas

Learn more and apply today by visiting SickKids Career Page and search Job ID 16296 

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.

Headshot of Adam Schlien

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

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. 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.

Research themes

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. 

AI intersects with Genomics

Improving clinical diagnosis through epigenetic classification 

Dr. Rosanna Weksberg and her team have pioneered an epigenetic classifier that has utility for clinical diagnosis of rare diseases. 

Using genome-wide DNA methylation-based assays, and bioinformatic analytic pipelines including artificial intelligence, the Weksberg lab has developed many highly sensitive and specific classifiers for functional assessment of variant pathogenicity in rare neurodevelopmental disorders. With the growing prominence of personalized medicine in health care and the focus on the development of new treatments, the ultimate goal of an accurate molecular diagnosis is shifting from just identifying a causal gene to understanding the functionality of each gene variant. This shift will enable personalized genomic medicine to ultimately deliver a full suite of diagnostic and treatment options to individuals with rare neurodevelopmental disorders. 

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. 

Latest news

Artistic rendering of a DNA helix

May 30, 2023

Decoding the dark matter of our DNA: Study links genetic variants to blood pressure regulation

SickKids scientists assign function to the non-coding genome and shine a light on the genetics of hypertension.

A graphic containing cartoon illustrations of five youth surrounded by key themes youth identified matter to them when thinking about AI use in health care. Inside a cloud in the centre of the image, the text reads, "AI in health care: What matters to youth?". The key themes include research benefits, consent, confidentiality & privacy, person-centred care, responsible practice, data sharing and shared decision-making.

May 8, 2023

Youth voices should inform new future for the use of AI in medicine

A research team heard from 28 young people about their views on integrating artificial intelligence into patient care.

Dr. Kyoko Yuki (left) and Dr. Lianna Kyriakopoulou standing in front of various lab equipment.

April 13, 2023

Clinical RNA sequencing platform unites research and care for rare disease diagnostics in support of Precision Child Health

A clinical RNA sequencing platform at SickKids, the first of its kind in Canada, offers insights into the diagnosis of complex genetic conditions and the future of precision diagnostics.

Contact GGB

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

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