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
Austin, Jehannine Clinical genetics (except cancer genetics); 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 Bioinformatics; Clinical oncology; Genetic medicine; Genomics; cancer families; cancer genetics; genetic susceptibility; human genetics; longevity; Super seniors
Brown, Carolyn Epigenetics and epigenomics; Other basic medicine and life sciences; Gene regulation and expression; Genomics; Developmental genetics (including sex determination); 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 Medical, health and life sciences; 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 Medical, health and life sciences; Pharmacogenomics; Adverse drug reactions (ADRs); Drug safety and effectiveness; Clinical pharmacology; Pharmacovigilance
Conibear, Elizabeth Other basic medicine and life sciences; Protein trafficking in cell biology; Molecular genetics; Functional genomics; Membranes; Enzymes and Proteins; Vesicle Trafficking; Molecular Genetics; Neurodegenerative diseases; Protein Palmitoylation; Cell Signaling and Cancer
Crome, Sarah Tissue-resident innate lymphocyte biology; Immune regulation and tolerance; Translational immunotherapy
Dennis, Jessica Bioinformatics; Genetic medicine; Complex Trait Genetics; genetic epidemiology; statistical genetics; Psychiatric conditions; neurodegenerative disease; Precision Health; Administrative health data; Electronic health records; Machine Learning
Elliott, Alison Other health sciences; rare disease; genomics; Congenital Malformations; Skeletal and limb anomalies; Genetic Counselling; Health services implementation science
Evgin, Laura
Friedman, Jan Marshall Other clinical medicine; Other basic medicine and life sciences; 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
Gibson, William Genetic medicine; Genetic Diseases; Chromosomes: Structure / Organization; Epigenetics
Hayden, Michael Genetic medicine; Health counselling; Neurosciences, biological and chemical aspects; Neurosciences, medical and physiological and health aspects; 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 Computational cell biology; Cancer; Genomics; Medical and biomedical engineering; Nucleic acids studies; Developmental Genetics; Embryology; Embryonic Development; Epigenetics; Heart Valve / Valvular Diseases; Heart valve formation; Liver; Liver development; Stem Cells and Organogenesis; transcriptional regulation
Huntsman, David Ovarian and other gynaecologic cancers , Molecular pathology and genomics , Rare cancers, Translational research
Jefferies, Wilfred Arthur Iron transport molecules
Jiang, Xiaoyan Cancer drug development and therapeutics
Jones, Steven J Bioinformatics, genome science, mutations, cancer progression
Kobor, Michael Biochemistry; Bioinformatics; Genetic medicine; Genomics; Chromatin Biology; Epigenetics; molecular biology; Social Epigenetics
Lansdorp, Peter Mechanisms of carcinogenesis; Single cell Strand-seq to study gene expression, DNA repair and personalized genomics; 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 Genetic medicine; Neurosciences, biological and chemical aspects; Neurosciences, medical and physiological and health aspects; 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