Medical Genetics

Faculty in Medical Genetics are at the forefront of their fields employing cutting edge genetic, epigenetic, genomic and bioinformatic methodologies to gain insight into diseases such as cancer, diabetes, obesity, neurodegenerative and neurological disorders, and other genetic diseases.

Areas of research Include:

  • Cancer Genetics & Genomics
  • Clinical Genetics, Genetic Counselling and Ethics & Policy
  • Developmental Genetics
  • DNA Repair & Genome Stability
  • Epigenetics, Epigenomics & Gene Regulation
  • Genetic Epidemiology & Population Genetics
  • Genomics & Bioinformatics
  • Immunogenetics
  • Neurogenetics & Neurodegenerative Disease Genetics
  • Pharmacogenomics
  • Proteomics
  • Stem Cells & Gene Therapy
Name Research Interests
Arbour, Laura northern and aboriginal health issues as they pertain to genetics
Austin, Jehannine genetic counseling; genetics services; mental health; genetic counseling, genetics services, Mental health
Birol, Inanc bioinformatics, computational biology, genomics, transcriptome analysis, next generation sequencing, cancer, Bioinformatics, sequence assembly, transcriptomics, gene regulation networks, high throughput informatics for big data
Brooks-Wilson, Angela cancer families; cancer genetics; genetic susceptibility; human genetics; longevity; Super seniors; Cancer families, Cancer genetics, Genetic susceptibility, Human genetics, Longevity, Super seniors
Brown, Carolyn Janet Applied Genetics; Chromosomes: Structure / Organization; DNA methylation; Epigenetic control of gene expression; Gene Regulation and Expression; Genes escaping X-chromosome inactivation; Long non-coding RNAs; X-chromosome inactivation; XIST RNA; Applied Genetics, Chromosomes: Structure / Organization, DNA methylation, Epigenetic control of gene expression, Gene Regulation and Expression, Genes escaping X-chromosome inactivation, Long non-coding RNAs, X-chromosome inactivation, XIST RNA
Brunham, Liam Lipids; Genetics; Pharmacogenomics; Cardiovascular diseases; Lipids, Genetics, Pharmacogenomics, Cardiovascular diseases
Capon, Francesca Basic medicine and life sciences; Autoimmune Diseases; Pericardial Disorders; Rare diseases; Skin Conditions; Skin inflammation; Bioinformatics
Carleton, Bruce Pediatrics, clinical pharmacology, outcomes research, drug policy evaluation, health services research, drug safety and adverse drug reactions
Conibear, Elizabeth Functional genomics; Membranes; Enzymes and Proteins; Vesicle Trafficking; Molecular Genetics; Neurodegenerative diseases; Protein Palmitoylation; Cell Signaling and Cancer; Functional Genomics, Membranes, Enzymes and Proteins, Vesicle Trafficking, Molecular Genetics, Neurodegenerative Diseases, Protein Palmitoylation, Cell Signaling and Cancer
Dennis, Jessica Complex Trait Genetics; genetic epidemiology; statistical genetics; Psychiatric conditions; neurodegenerative disease; Precision Health; Administrative health data; Electronic health records; Machine Learning; Complex trait genetics, Genetic epidemiology, Statistical genetics, Psychiatric conditions, Neurodegenerative disease, Precision health, Administrative health data, Electronic health records, Machine learning
Elliott, Alison rare disease; genomics; Congenital Malformations; Skeletal and limb anomalies; Genetic Counselling; Health services implementation science; Rare disease, Genomics, Congenital malformations, Skeletal and limb anomalies, Genetic counselling, Health services implementation science
Evgin, Laura
Friedman, Jan Marshall Use of advanced genome sequencing technology in the diagnosis of genetic disease; Development of improved bioinformatics methods to identify disease-causing genomic variants; Characterization of local genetic ancestry from genomic data; Clinical genomics; Birth defects epidemiology; Clinical teratology; Application of whole genome sequencing to diagnose genetic disease, Birth defects epidemiology, Clinical genomics, Developmental Genetics, Genetics and Heredity, Neurofibromatosis
Gibson, William Genetic Diseases; Chromosomes: Structure / Organization; Epigenetics; Genetic Diseases, Chromosomes: Structure / Organization, Epigenetics
Hayden, Michael Diabetes; Disease progression; Drug development; Gene Therapy; Genetic Diseases; Huntington disease; Neurodegenerative diseases; Neurodegenerative disorders; Diabetes, Disease progression, Drug development, Gene therapy, Genetic Diseases, Huntington disease, Neurodegenerative Diseases, Neurodegenerative disorders
Hieter, Philip Molecular biology of eukaryotic chromosome transmission
Holt, Robert Immunogenetics, Metagenomics - Infectious agents in Cancer, Cancer Genomes, Neurobiology, DNA Sequencing
Hoodless, Pamela Developmental Genetics; Embryology; Embryonic Development; Epigenetics; Heart Valve / Valvular Diseases; Heart valve formation; Liver; Liver development; Stem Cells and Organogenesis; transcriptional regulation; Developmental Genetics, Embryology, Embryonic Development, Epigenetics, Heart Valve / Valvular Diseases, Heart valve formation, Liver, Liver development, Stem Cells and Organogenesis, Transcriptional regulation
Huntsman, David hereditary cancer, molecular pathology, cancer biomarkers, Pancreas centre
Jefferies, Wilfred Arthur Iron transport molecules
Jiang, Xiaoyan Studying inherited human disorders to understand human development, behaviour, physiology and degeneration, Emphasis on neurological, neuromuscular, and psychiatric diseases
Jones, Steven J Bioinformatics, genome science, mutations, cancer progression
Kobor, Michael Chromatin Biology; Epigenetics; molecular biology; Social Epigenetics; Chromatin Biology, Epigenetics, Molecular Biology, Social Epigenetics
Lansdorp, Peter Application of single cell Strand-seq in precision medicine; Applied Genetics; cellular aging; Cellular Degeneration; Cellular Division; Complex Trait Genetics; DNA replication, epigenetics and stem cells; Gene Regulation and Expression; Genetic Diseases; Stem Cells and Organogenesis; telomeres; Telomeres, genomic instability, aging and cancer; Application of single cell Strand-seq in precision medicine, Applied Genetics, Cellular Aging, Cellular Degeneration, Cellular Division, Complex Trait Genetics, DNA replication, epigenetics and stem cells, Gene Regulation and Expression, Genetic Diseases, Stem Cells and Organogenesis, Telomeres, Telomeres, genomic instability, aging and cancer
Leavitt, Blair Alzheimer's disease; Amyotrophic Lateral Sclerosis; Ataxia; Dementia; Experimental Therapeutics; Frontotemporal Dementia; Gene regulation; Gene Silencing and Gene Editing; Gene Therapy; Huntington disease; Induced Pluripotent Stem Cells; Medical Genetics; Mouse models of disease; Neurodegenerative diseases; Neurogenetics; Alzheimer's Disease, Amyotrophic Lateral Sclerosis, Ataxia, Dementia, Experimental Therapeutics, Frontotemporal Dementia, Gene Regulation, Gene Silencing and Gene Editing, Gene Therapy, Huntington disease, Induced Pluripotent Stem Cells, Medical Genetics, Mouse models of disease, Neurodegenerative Diseases, Neurogenetics