Human Genetics and Genomics

Mission Statement

Improving the health of individuals, families and communities through genetic discovery and education.

Faculty members participating in Human Genetics and Genomics graduate program:

Core faculty:

Touati Benoukraf, PhD

Curtis French, PhD

Sevtap Savas, PhD

Michael Woods, PhD

Terry-Lynn Young, PhD

Guangju Zhai, MD, PhD

Cross-appointed faculty:

Ann Dorward, PhD

Kathy Hodgkinson, PhD

Darren O’Rielly, PhD

Lourdes Pena-Castillo, PhD

Proton Rahman, MD

Professor Emeritus:

Jane Green. PhD

Human Genetics and Genomics graduate program

The graduate program in Human Genetics & Genomics provides opportunities to pursue academic studies and research in a number of key areas including Mendelian and complex traits with a variety of approaches including molecular genetics, genomics and other omics applications, animal models, bioinformatics, genetic epidemiology, and population genetics.

Our research is interdisciplinary with unique opportunities to apply skills to work with regional genetic isolates, as well as other populations, to explore the genetic and non-genetic determinants of health and diseases of global significance.

The Faculty members have multi-disciplinary research expertise. Strengths of the faculty are in the areas of cancer genetics, genetic epidemiology, gene mapping, medical genetics, population genetics, complex diseases, large-scale sequencing and omics analyses, animal models and development, and bioinformatics.

Faculty members from all three Divisions of the Faculty of Medicine (BioMedical Sciences, Community Health and Clinical Sciences) participate in the program. This multi-disciplinary integrated approach to teaching and research training is designed to provide trainees with an understanding of human genetics & genomics which include both theory and practical applications of human disease.

The HGG program offers exciting learning and research opportunities. Graduate training is enriched by in-class courses, Genetics Seminar Series, and research projects (degree requirement). In addition, Graduate Student Research Forum, visiting speaker program, and experiential learning opportunities enhance the graduate learning and training. Students are expected to participate in the activities of the Genetics & Genomics group.

Both MSc and PhD degree programs are thesis-based programs. In order to obtain an MSc or PhD degree, students will be required to have completed an advanced undergraduate course in genetics, Genetics Seminar Series, a minimum of two graduate level courses (for MSc), and a thesis based on original research. PhD students may be recommended to take graduate level courses if needed. Students admitted to or transferring to the PhD program will be required to pass a comprehensive examination in accordance with the regulations governing the School of Graduate Studies.

The Human Genetics Student Society (HGSS)

The HGG program is home to The Human Genetics Student Society (HGSS). HGSS is a student-run society that aims to support the students and enhance their experiences. HGSS is also quite active in community activities, which provide excellent experiential learning opportunities for students.

Courses offered:

The following graduate courses are offered by the Human Genetics & Genomics program, in addition to Genetics Seminar Series (MED6400-6403 for MSc; MED6410-6413 for PhD). The course contents are updated as required.

Human Molecular Genetics (MED 6393):

The course will present a synopsis of a wide range of topics relevant to human genetics, with an emphasis on molecular aspects.  It will begin with an overview of basic genetic concepts and will proceed to cover the current state of knowledge with respect to the occurrence of genetic mutations in human populations and methods for their detection study.

Human Population Genetics (MED 6390):

This course provides an overview of the genetic variation of human populations and the factors that influence it, and introduces basic concepts in genetic variation in liability to human disease.

Applied Human Genetics (MED 6392):

This course will deal with the application of Genetics to the understanding, prevention and treatment of human disease.  The classification, distribution and impact of these diseases will provide background to reviews of genetic counselling, clinical service delivery and evaluation, genetic screening and the role of registers and data bases. Different approaches to treatment, including gene therapy, will be discussed and ethical issues which arise, as well as genetic education of the public will be emphasized.  The course will include lectures, discussions and student presentations.  Students will be required to submit one essay.

Cancer Genetics (MED 6394):

This course will cover current knowledge of molecular and clinical genetics of hereditary cancer.  Mutations predisposing to cancer, clinical characteristics, natural history and management of genetic cancer syndromes and the development of screening programs for hereditary cancers will be discussed.  Penetrance, predisposition and variability will also be introduced.

Genetic Epidemiology (MED 6395):

Genetic Epidemiology is a rapidly developing and highly demanding research field in the genomic era. It holds great potential for personalized medicine and improved biological knowledge of disease processes. The course will provide students with an overview of genetic epidemiology and equip them with the skills to develop statistical methods and analyze genetic data. Specific topics include concept of genetic epidemiology, study design, ascertainment bias and confounding effect, quantification of genetic contribution to complex traits, linkage analysis, association analysis, genome-wide association, multiple testing issue, and gene*environmental interaction, Mendelian randomization, gene expression analysis, introduction of NGS and metabolomics and bioinformatics analysis, and pathway and network analysis. The use of genetic software will be demonstrated. This course will provide students the necessary background and prepare them for advanced study and research in the area of genetic epidemiology.

Selected Topics in Human Genetics (MED 6391):

In this course, a student will undertake a comprehensive literature review or other directed study pertaining to a human genetics topic of interest.  The student will meet weekly with the course supervisor to discuss their progress.  At the end of the semester the student will provide a detailed written review of the subject area and present a seminar to the Human Genetics Journal Club/Discussion group.  The grade will be based on both the written review and the oral presentation. 

For further information and admission procedures, please see: