Doctor of Philosophy in Medical Genetics (PhD)

Canadian Immigration Updates

Applicants to Master’s and Doctoral degrees are not affected by the recently announced cap on study permits. Review more details

Overview

The UBC Department of Medical Genetics is an inspiring and productive community of scholars of genetics and genomics. It is an outstanding provider of knowledge, technical expertise, and compassionate care for our patients. Faculty members in the Department of Medical Genetics are at the forefront of their fields using 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. Research is highly interactive and often involves local, national, and international collaborations which further enrich the research experience.

Individual labs conduct clinical and/or translational research and basic experimental research engaging a wide variety of approaches including the use of model organisms such as mice, flies (D. melanogaster), worms (C. elegans), and yeast (S. cerevisiae).

What makes the program unique?

The Mission of the UBC Department of Medical Genetics is to pursue basic and clinical research for diagnosis, prevention, and treatment of genetic disease. Our goal is to be a world leader in the research, clinical practice, and teaching of Genetic Medicine. The Department is a respected source of information and advice to society. While focusing on key areas of genetic medicine, we view diversity of approach and techniques to be an essential strength of our Department.

 

Program Enquiries

Still have questions after reviewing this page thoroughly?
Contact the program

Admission Information & Requirements

Program Instructions

Grade Point Average (GPA) – Canadian applicants:

  • GPA calculation of Canadian degrees is based on all upper-level courses taken in the most recent, full time degree.

Grade Point Average (GPA) – international degrees:

  • Check your COUNTRY of education for minimum GPA and length of degree program to determine if your credentials meet UBC admission requirements. GPA calculation is based on the final, overall standing (grade) achieved in the last completed degree. Final standing is determined from your school's grading system.

1) Check Eligibility

Minimum Academic Requirements

The Faculty of Graduate and Postdoctoral Studies establishes the minimum admission requirements common to all applicants, usually a minimum overall average in the B+ range (76% at UBC). The graduate program that you are applying to may have additional requirements. Please review the specific requirements for applicants with credentials from institutions in:

Each program may set higher academic minimum requirements. Please review the program website carefully to understand the program requirements. Meeting the minimum requirements does not guarantee admission as it is a competitive process.

English Language Test

Applicants from a university outside Canada in which English is not the primary language of instruction must provide results of an English language proficiency examination as part of their application. Tests must have been taken within the last 24 months at the time of submission of your application.

Minimum requirements for the two most common English language proficiency tests to apply to this program are listed below:

TOEFL: Test of English as a Foreign Language - internet-based

Overall score requirement: 100

Reading

24

Writing

26

Speaking

24

Listening

24

IELTS: International English Language Testing System

Overall score requirement: 7.5

Reading

7.0

Writing

7.0

Speaking

7.0

Listening

7.0

Property field_prog_lang_test_min

Other Test Scores

Some programs require additional test scores such as the Graduate Record Examination (GRE) or the Graduate Management Test (GMAT). The requirements for this program are:

The GRE is not required.

Prior degree, course and other requirements

Prior Degree Requirements

MSc degree (focused on life sciences, biotechnology, etc.)

Course Requirements

Mandatory advanced-level courses in:

  • Genetics and/or genomics

Strongly recommended advanced-level courses in one or more of the following:

  • Biochemistry
  • Molecular Biology
  • Biostatistics (Statistics)
  • Bioinformatics

Additional criteria:

  • Relevant laboratory research experience
  • Excellent references with assessment of research expertise and aptitude
Document Requirements

A complete application includes:

Application form

Letter of interest / intent (1 page)

Curriculum Vitae

References (3)

TOEFL or IELTS test scores – if applicable

  • Your application will not be reviewed, and therefore be rejected if your OVERALL AND COMPONENT test scores are below the required Medical Genetics minimum scores. There will be no exceptions. 

Official post-secondary transcripts; and degree certificates (international students)

  • Unofficial transcripts, web transcripts and poor-quality scans are not acceptable. Do not include high school transcripts.
  • Each transcript must be scanned as a single PDF document and MUST include the grading key.
Other Requirements

Successful applicants meet and often exceed the admissions and pre-requisite requirements:

  • Typically have relevant, independent, multi-month (wet or dry) laboratory research experience;
  • Typically have excellent, detailed reference letters with assessment of applicant's research expertise and aptitude by direct research supervisors, not just from course instructors;
  • Often have won awards and/or published journal articles and/or presented posters or platform presentations and/or attended professional meetings and/or volunteered for science-related events (outreach, etc.)

2) Meet Deadlines

Application open dates and deadlines for an upcoming intake have not yet been configured in the admissions system. Please check back later.

3) Prepare Application

Transcripts

All applicants have to submit transcripts from all past post-secondary study. Document submission requirements depend on whether your institution of study is within Canada or outside of Canada.

Letters of Reference

A minimum of three references are required for application to graduate programs at UBC. References should be requested from individuals who are prepared to provide a report on your academic ability and qualifications.

Statement of Interest

Many programs require a statement of interest, sometimes called a "statement of intent", "description of research interests" or something similar.

Supervision

Students in research-based programs usually require a faculty member to function as their thesis supervisor. Please follow the instructions provided by each program whether applicants should contact faculty members.

Instructions regarding thesis supervisor contact for Doctor of Philosophy in Medical Genetics (PhD)
Applicants should browse faculty profiles and indicate in their application who they are interested in working with. No commitment from a supervisor prior to applying is necessary, but contacting faculty members is encouraged.

SEPTEMBER INTAKE - MSc and PhD Applicants:

  • Supervisor commitment is not required by the application deadline (i.e. when submitting the online application form)
  • Applicants who are deemed admissible will be notified, and then must secure the commitment of a research supervisor to receive an offer of admission to the UBC Medical Genetics Graduate Program.

JANUARY INTAKE – PhD Applicants Only:

  • The Medical Genetics Graduate Program Office will open January applications only by request to PhD applicants who meet grade point average (GPA) and TOEFL/IELTS (if applicable) requirements and who have received a written commitment from a Medical Genetics Research Supervisor at the time of application.

Citizenship Verification

Permanent Residents of Canada must provide a clear photocopy of both sides of the Permanent Resident card.

4) Apply Online

All applicants must complete an online application form and pay the application fee to be considered for admission to UBC.

Research Information

Research Highlights

See Medical Genetics website for up-to-date articles featuring faculty research.

Research Focus

Research in the Department of Medical Genetics covers the study of human genetics with areas of focus in mammalian development, regulation of gene expression, genetic diseases due to single gene or complex inheritance, birth defects, reproduction, cancer, immunology, genomics, bioinformatics, ethics and population health.

Research Areas of Expertise:

  • Cancer Genetics & Genomics
  • Clinical Genetics, Genetic Counselling, Ethics & Policy
  • Developmental Genetics & Birth Defects
  • DNA Repair & Genome Stability
  • Epigenetics, Epigenomics & Gene Regulation
  • Genetic Epidemiology & Population Genetics
  • Genomics & Bioinformatics
  • Immunogenetics
  • Neuroscience & Neurodegenerative Disease Genetics
  • Pharmacogenomics
  • Proteomics Stem Cells & Gene Therapy

Program Components

Medical Genetics Rotation Program: MSc and PhD applicants who have applied for the September-start, and who are highest ranked by the Medical Genetics Admissions Committee, will be offered the opportunity to join the Medical Genetics Rotation Program. The four top-ranked applicants are offered positions will also receive one-year Rotation Program Awards. Rotation Program students rotate through three different laboratories before choosing a final, thesis lab. Rotations are for nine-weeks each, from September to March. The Rotation Program is open to Canadians, Permanent Residents of Canada, and international applicants.

Medical Genetics Graduate Program students are encouraged to volunteer their leadership skills and talents to science-related departmental and community events and projects. There are many volunteer opportunities available through the University, at students’ research facilities, and in the local community. The Departmental student organization, the Medical Genetics Graduate Student Society (MGGSA), plans annual departmental events such as September Welcome and Research Day as well as on-going academic and social events.

Research Facilities

Medical Genetics graduate student training takes place at multiple state-of-the-art facilities, representing a diverse collection of training environments. These include several centres on the UBC Point Grey Campus (e.g. Life Sciences Centre, Brain Research Centre, Michael Smith Laboratories) and off-campus (e.g Michael Smith Genome Sciences Centre, BC Children’s Hospital Research Institute, Centre for Molecular Medicine and Therapeutics,Terry Fox Laboratory at the BC Cancer Agency, etc.). Available research services and facilities include: animal modeling, biobanking, bioanalyzer, bioinformatics, DNA sequencing, flow cytometry, genotyping and gene expression, histology and imaging, transgenic facility, support to perform biostatistics, clinical trials, data management and access to health research and evaluation services.

Tuition & Financial Support

Tuition

FeesCanadian Citizen / Permanent Resident / Refugee / DiplomatInternational
Application Fee$114.00$168.25
Tuition *
Installments per year33
Tuition per installment$1,838.57$3,230.06
Tuition per year
(plus annual increase, usually 2%-5%)
$5,515.71$9,690.18
Int. Tuition Award (ITA) per year (if eligible) $3,200.00 (-)
Other Fees and Costs
Student Fees (yearly)$1,116.60 (approx.)
Costs of livingEstimate your costs of living with our interactive tool in order to start developing a financial plan for your graduate studies.
* Regular, full-time tuition. For on-leave, extension, continuing or part time (if applicable) fees see UBC Calendar.
All fees for the year are subject to adjustment and UBC reserves the right to change any fees without notice at any time, including tuition and student fees. Tuition fees are reviewed annually by the UBC Board of Governors. In recent years, tuition increases have been 2% for continuing domestic students and between 2% and 5% for continuing international students. New students may see higher increases in tuition. Admitted students who defer their admission are subject to the potentially higher tuition fees for incoming students effective at the later program start date. In case of a discrepancy between this webpage and the UBC Calendar, the UBC Calendar entry will be held to be correct.

Financial Support

Applicants to UBC have access to a variety of funding options, including merit-based (i.e. based on your academic performance) and need-based (i.e. based on your financial situation) opportunities.

Program Funding Packages

Stipend Amount and Duration:

The recommended minimum yearly stipend for full-time Medical Genetics thesis-based graduate students (Canadian and international) is:

PhD: $28,000

New and current doctoral students at UBC receive the President's Academic Excellence Inititiative PhD Award (PAEI) tuition award. International doctoral students also receive the International Tuition Award (ITA).The student pays any remaining tuition from their stipend.The stipend may come from an independent studentship award and/or from the Research Supervisor's research grant.

Admission to the Medical Genetics Graduate Program normally includes a commitment from the Supervisor to ensure that each student is supported to the recommended funding level. Exceptions to this policy may be granted under unusual circumstances. Financial support from personal resources is not acceptable as “funding” for incoming students in the Medical Genetics Graduate Program.

The duration of the annual stipend is normally two years for an MSc student and four years for a PhD student. After the two-year MSc and four-year PhD point, continued funding is at the discretion of the Supervisor. The Supervisor should inform their student in writing (with a copy to the Medical Genetics Graduate Program office) at least six months prior to the end-date of the student's stipend.

Funding depends both on satisfactory academic and research progress, as determined by the Student’s Supervisory Committee, and on the Research Supervisor's continued grant support. Termination of funding for other justifiable reasons must be approved by a majority of the Medical Genetics Graduate Advisory Committee.

University and External Awards:

Medical Genetics Graduate Program students receive funding from various sources; not all students will receive the same amount. Students receive a stipend which may come from an independent studentship award and/or from the Research Supervisor's research grant. If a student wins an award, their supervisor will top up their stipend.

Competitive Scholarships: National Science & Engineering Council (NSERC) & Canadian Institute of Health Research (CIHR); UBC Affiliated Fellowships; Medical Genetics Four Year Doctoral Fellowship (4YF).

Other UBC awards: Students may qualify for building-specific and research-specific awards.

Average Funding
Based on the criteria outlined below, 26 students within this program were included in this study because they received funding through UBC in the form of teaching, research, academic assistantships or internal or external awards averaging $34,150.
  • 9 students received Teaching Assistantships. Average TA funding based on 9 students was $5,309.
  • 21 students received Research Assistantships. Average RA funding based on 21 students was $15,833.
  • 5 students received Academic Assistantships. Average AA funding based on 5 students was $4,135.
  • 26 students received internal awards. Average internal award funding based on 26 students was $11,242.
  • 8 students received external awards. Average external award funding based on 8 students was $24,333.

Study Period: Sep 2022 to Aug 2023 - average funding for full-time PhD students enrolled in three terms per academic year in this program across years 1-4, the period covered by UBC's Minimum Funding Guarantee. Averages might mask variability in sources and amounts of funding received by individual students. Beyond year 4, funding packages become even more individualized.
Review methodology
Scholarships & awards (merit-based funding)

All applicants are encouraged to review the awards listing to identify potential opportunities to fund their graduate education. The database lists merit-based scholarships and awards and allows for filtering by various criteria, such as domestic vs. international or degree level.

Graduate Research Assistantships (GRA)

Many professors are able to provide Research Assistantships (GRA) from their research grants to support full-time graduate students studying under their supervision. The duties constitute part of the student's graduate degree requirements. A Graduate Research Assistantship is considered a form of fellowship for a period of graduate study and is therefore not covered by a collective agreement. Stipends vary widely, and are dependent on the field of study and the type of research grant from which the assistantship is being funded.

Graduate Teaching Assistantships (GTA)

Graduate programs may have Teaching Assistantships available for registered full-time graduate students. Full teaching assistantships involve 12 hours work per week in preparation, lecturing, or laboratory instruction although many graduate programs offer partial TA appointments at less than 12 hours per week. Teaching assistantship rates are set by collective bargaining between the University and the Teaching Assistants' Union.

Graduate Academic Assistantships (GAA)

Academic Assistantships are employment opportunities to perform work that is relevant to the university or to an individual faculty member, but not to support the student’s graduate research and thesis. Wages are considered regular earnings and when paid monthly, include vacation pay.

Financial aid (need-based funding)

Canadian and US applicants may qualify for governmental loans to finance their studies. Please review eligibility and types of loans.

All students may be able to access private sector or bank loans.

Foreign government scholarships

Many foreign governments provide support to their citizens in pursuing education abroad. International applicants should check the various governmental resources in their home country, such as the Department of Education, for available scholarships.

Working while studying

The possibility to pursue work to supplement income may depend on the demands the program has on students. It should be carefully weighed if work leads to prolonged program durations or whether work placements can be meaningfully embedded into a program.

International students enrolled as full-time students with a valid study permit can work on campus for unlimited hours and work off-campus for no more than 20 hours a week.

A good starting point to explore student jobs is the UBC Work Learn program or a Co-Op placement.

Tax credits and RRSP withdrawals

Students with taxable income in Canada may be able to claim federal or provincial tax credits.

Canadian residents with RRSP accounts may be able to use the Lifelong Learning Plan (LLP) which allows students to withdraw amounts from their registered retirement savings plan (RRSPs) to finance full-time training or education for themselves or their partner.

Please review Filing taxes in Canada on the student services website for more information.

Cost Estimator

Applicants have access to the cost estimator to develop a financial plan that takes into account various income sources and expenses.

Career Outcomes

53 students graduated between 2005 and 2013: 1 is in a non-salaried situation; for 4 we have no data (based on research conducted between Feb-May 2016). For the remaining 48 graduates:


RI (Research-Intensive) Faculty: typically tenure-track faculty positions (equivalent of the North American Assistant Professor, Associate Professor, and Professor positions) in PhD-granting institutions
TI (Teaching-Intensive) Faculty: typically full-time faculty positions in colleges or in institutions not granting PhDs, and teaching faculty at PhD-granting institutions
Term Faculty: faculty in term appointments (e.g. sessional lecturers, visiting assistant professors, etc.)
Sample Employers in Higher Education
University of British Columbia (9)
Stanford University (2)
University of Toronto (2)
Washington University in St Louis (2)
Babraham Institute
University of Hong Kong
University of Calgary
Duke University
Ulm University
University of Warwick
Sample Employers Outside Higher Education
BC Cancer Agency (3)
Hospital for Sick Children (2)
Mayo Clinic
PROOF Centre of Excellence
InSilixa, Inc.
Vancouver Coastal Health
Rick Hansen Institute
Fred Hutchinson Cancer Research Center
Provincial Health Services Authority
Spectrum Mobile Health
Sample Job Titles Outside Higher Education
Postdoctoral Fellow (3)
Scientist (2)
Research Associate (2)
Site Manager
Staff Scientist
Strategic Development Officer
Management Consultant
Director, Co-founder
Associate Project Manager
Senior Product Marketing Manager
PhD Career Outcome Survey
You may view the full report on career outcomes of UBC PhD graduates on outcomes.grad.ubc.ca.
Disclaimer
These data represent historical employment information and do not guarantee future employment prospects for graduates of this program. They are for informational purposes only. Data were collected through either alumni surveys or internet research.
Career Options

The PhD program in Medical Genetics is a research-based, thesis-based program which generally takes five to six years to complete. Graduates find employment in the public and private sector, and also pursue further studies in the field of Medical Genetics. Following is a brief sample of occupations that our graduates are pursuing:

  • Academia:
    • Assistant Professor / Associate Clinical Professor, etc.
    • Principal Investigator
    • Canada Research Chair
  • Advanced Training:
    • Post-doctoral Fellow
    • Laboratory Genetics and Genomics Postdoctoral Fellow
    • Fellow of the Canadian College of Medical Genetics
    • Postdoctoral Clinical Laboratory Fellow
    • Diagnostics Laboratory Manager
    • Medical Doctor
  • Industry / Clinical Careers:
    • Clinical Molecular Geneticist and Cytogeneticist
    • Research Program Manager
    • Online Marketing Coordinator
    • Scientific Sales Representative
    • Research and Development Scientist

Enrolment, Duration & Other Stats

These statistics show data for the Doctor of Philosophy in Medical Genetics (PhD). Data are separated for each degree program combination. You may view data for other degree options in the respective program profile.

ENROLMENT DATA

 20232022202120202019
Applications1110191721
Offers12143
New Registrations12133
Total Enrolment3541414040

Completion Rates & Times

This program has a graduation rate of 96% based on 30 students admitted between 2011 - 2014. Based on 10 graduations between 2020 - 2023 the minimum time to completion is 3.75 years and the maximum time is 7.18 years with an average of 6.11 years of study. All calculations exclude leave times.
Disclaimer
Admissions data refer to all UBC Vancouver applications, offers, new registrants for each registration year, May to April, e.g. data for 2022 refers to programs starting in 2022 Summer and 2022 Winter session, i.e. May 1, 2022 to April 30, 2023. Data on total enrolment reflects enrolment in Winter Session Term 1 and are based on snapshots taken on November 1 of each registration year. Program completion data are only provided for datasets comprised of more than 4 individuals. Graduation rates exclude students who transfer out of their programs. Rates and times of completion depend on a number of variables (e.g. curriculum requirements, student funding), some of which may have changed in recent years for some programs.

Upcoming Doctoral Exams

Monday, 17 June 2024 - 9:00am - Room 203

Benjamin Life
Progranulin Function and Regulation in Brain Disease

Friday, 28 June 2024 - 12:30pm - 1312, Life Sciences Institute, 2350 Health Sciences Mall

Sydney Holme
Mechanisms that Regulate the Activity of the NRAS Depalmitoylase ABHD17

Research Supervisors

Supervision

Students in research-based programs usually require a faculty member to function as their thesis supervisor. Please follow the instructions provided by each program whether applicants should contact faculty members.

Instructions regarding thesis supervisor contact for Doctor of Philosophy in Medical Genetics (PhD)
Applicants should browse faculty profiles and indicate in their application who they are interested in working with. No commitment from a supervisor prior to applying is necessary, but contacting faculty members is encouraged.

SEPTEMBER INTAKE - MSc and PhD Applicants:

  • Supervisor commitment is not required by the application deadline (i.e. when submitting the online application form)
  • Applicants who are deemed admissible will be notified, and then must secure the commitment of a research supervisor to receive an offer of admission to the UBC Medical Genetics Graduate Program.

JANUARY INTAKE – PhD Applicants Only:

  • The Medical Genetics Graduate Program Office will open January applications only by request to PhD applicants who meet grade point average (GPA) and TOEFL/IELTS (if applicable) requirements and who have received a written commitment from a Medical Genetics Research Supervisor at the time of application.
 
Advice and insights from UBC Faculty on reaching out to supervisors

These videos contain some general advice from faculty across UBC on finding and reaching out to a supervisor. They are not program specific.

 

This list shows faculty members with full supervisory privileges who are affiliated with this program. It is not a comprehensive list of all potential supervisors as faculty from other programs or faculty members without full supervisory privileges can request approvals to supervise graduate students in this program.

  • Arbour, Laura (northern and aboriginal health issues as they pertain to genetics)
  • 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 Janet (Bioinformatics; Clinical oncology; Genetic medicine; Genomics; Health counselling; 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)
  • Carleton, Bruce (Pediatrics, clinical pharmacology, outcomes research, drug policy evaluation, health services research, drug safety and adverse drug reactions)
  • 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)
  • Dennis, Jessica (Bioinformatics; Genetic medicine; Administrative health data; Complex Trait Genetics; Electronic health records; Epidemiology; genetic epidemiology; Genetics of Neurological and Psychiatric Diseases; Machine Learning; Mental Health and Psychopathology in Children and Youth; Precision Health; statistical genetics)
  • Elliott, Alison (Other health sciences; rare disease; genomics; Congenital Malformations; Skeletal and limb anomalies; Genetic Counselling; Health services implementation science)
  • Friedman, Jan Marshall (Other clinical medicine; Genetic medicine; Genomics; Health counselling; Application of whole genome sequencing to diagnose genetic disease; Birth defects epidemiology; Clinical genomics; Developmental Genetics; Genetics and Heredity; Neurofibromatosis)
  • 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 (hereditary cancer, molecular pathology, cancer biomarkers, Pancreas centre)
  • 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)
  • Langlois, Sylvie (Studies of genotype/phenotype correlations in single gene disorders; Validations of genomic tools for the study of mental retardation and prenatal screening for aneuploidy; Outcome studies related to prenatal genetic screening)
  • Lansdorp, Peter (Genetic medicine; 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 (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)

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Doctoral Citations

A doctoral citation summarizes the nature of the independent research, provides a high-level overview of the study, states the significance of the work and says who will benefit from the findings in clear, non-specialized language, so that members of a lay audience will understand it.
Year Citation
2023 Dr. Dziurdzik investigated a protein family implicated in different neurological disorders that hold together cellular compartments and shuttle lipids between them. Her work uncovered how these proteins target various compartments, improved our understanding of the disease pathogenesis, and also identified novel proteins with related functions.
2023 Dr. Carlaw's research helped improve the efficacy of therapeutic CRISPR Cas9 base editing for the treatment of previously incurable childhood genetic diseases. Her research helped establish some of the first reporter models for studying base editors and paved the way for the next generation of lipid nanoparticle delivered gene editors.
2023 Dr. Cyrus' work focused on the Polycomb Repressive Complex 2 syndromes, where she expanded the clinical phenotype of the most recently described syndrome: SUZ-12 Related Overgrowth. She further used Drosophila melanogaster to develop assays that can tell us if human genetic variants of interest can cause these syndromes or not.
2023 Dr. Gibson identified genetic variants and circulating biomarkers associated with pediatric primary systemic vasculitis, a rare and potentially life-threatening disease caused by blood vessel inflammation. These findings will assist in clinical classification and inform treatment decisions for children suffering from the disease.
2023 Dr. Thomson studied the mechanisms that regulate expression of the HTT gene that causes the neurodegenerative disorder Huntington's disease, and developed a method for improving the delivery of therapeutic nucleic acids to neurons. Her research informed the design of a new strategy for Huntington's disease treatment that targets its genetic origin.
2023 Dr. Schaffner studied the role of epigenetics in Parkinson's disease. She found that rare and common genetic variation, lifestyle, and pesticide exposure were associated with DNA modifications in blood and brain. Her work highlights how molecular pathways to Parkinson's disease may differ between individuals.
2023 Dr. Shortill explored mechanisms of intracellular protein sorting using a budding yeast model. His work led to the identification of the VINE complex, a previously unknown endosomal assembly with similarity to the neurodegeneration-linked retromer complex. These results pave the way for a more complete understanding of endosomal function.
2023 Dr. Mohanna worked towards developing a CRISPR gene therapy for the childhood blindness aniridia. She created a mouse model for this disease and subsequently tested two delivery systems. She showed that a non-pathogenic virus successfully targets the affected cells in the eye and can be used for developing a gene therapy for aniridia in the future.
2023 Dr. Ha studied the function and regulation of a unique class of genes which are expressed only when inherited from the mother or father. Her research furthers our understanding of the mechanism regulating the expression of a maternally-expressed gene and may impact the management and diagnosis of patients with imprinting disorders.
2023 Dr. Scott identified genetic predictors for two chemotherapy-related adverse drug reactions: cisplatin-induced hearing loss and anthracycline-induced cardiotoxicity. This research informs the development of genetic tests to predict and prevent these adverse reactions and ultimately improve the quality of life for cancer patients.

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Sample Thesis Submissions

Further Information

Specialization

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

Faculty Overview

Program Identifier

VGDPHD-P9
 
 
 
Supervisor Search
 

Departments/Programs may update graduate degree program details through the Faculty & Staff portal. To update contact details for application inquiries, please use this form.

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