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Genetics & Genome Biology

Research disciplines

The research activities of Genetics & Genome Biology program help drive the cycle of medical genetics research, from bedside to the bench and back.

Research Genetics Cycle

Research activities can be classified into five overlapping categories:

Gene discovery, structure, function, regulation and epigenetics
Researchers at SickKids have been leaders in the identification and characterization of genes involved in human diseases since the identification of the cystic fibrosis and Duchene muscular dystrophy genes in the 1980s. As our understanding of molecular pathology deepens, our research has expanded to include studying the roles of gene structure, regulation and epigenetic modification in genetic disorders.

Genome organization, stability and diversity, and comparative genomics
Genetics & Genome Biology researchers have made major contributions to the Human Genome Project and sequencing of the human genome. Ongoing research by program faculty has lead to pioneering discoveries concerning copy number variations (CNVs) in the human genome and their involvement in birth defects, psychiatric diseases and the development of cancer.

DNA replication, repair and recombination
This includes the study replication of repetitive sequences of DNA, cellular responses to DNA damage and the mechanisms by which human cells repair and recombine DNA. There is a specific focus on genetic conditions in which defects in these basic cellular functions predispose to neurologic degeneration, cancer, bone marrow failure and premature aging.

Chromatin structure, function and modification
Genetics & Genome Biology researchers in this area study the dynamic nature of chromatin organization and structure and how changes in chromatin structure and behavior can effect gene expression, genome stability and cellular function.

Genetic susceptibility to disease, population variation, genetic epidemiology and statistical genetics
Program researchers in this area focus on identifying genes which play a role in common diseases such as diabetes, as well genes which influence the onset and severity of classic genetic diseases such as cystic fibrosis.

Molecular and metabolic bases of inherited diseases, diagnostics and gene-based therapeutics
Program researchers working in this area focus on understanding the molecular, biochemical and cellular mechanisms that underlie inherited diseases. Insights gained from this work help inform the development of improved diagnostic tests, as well as the development of novel enzyme replacement and gene-based therapies.