Doctor of Philosophy in Medical Genetics (PhD)

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

Meet a Representative

Finding and reaching out to prospective supervisors and referees

Date: Thursday, 23 September 2021
Time: 17:00 to 18:00

For many research-based graduate programs you’ll need to find and secure a supervisor before submitting your application. In this webinar we take a close look at how to search for a supervisor and once you have found them how to reach out. We’ll also discuss the importance of having good references as part of your application and how to identify and approach referees.

This is not a program specific event and is a general session from the Faculty of Graduate and Postdoctoral Studies.  

This session will cover:

  • How to find a supervisor using UBC’s supervisor database.
  • What to consider when looking for a supervisor.
  • Who makes a great referee?
  • Advice on reaching out to referees
  • Q&A

Who is this webinar for?

This webinar is for anyone who needs to secure a supervisor as part of the graduate program application to UBC. You can check if your program of interest requires this step by looking at the program’s admission information and requirements on the program page. Find your program at grad.ubc.ca/prospective-students/graduate-degree-programs

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

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

September 2022 Intake

Application Open Date
01 December 2021
Canadian Applicants
Application Deadline: 01 February 2022
Transcript Deadline: 01 February 2022
Referee Deadline: 01 February 2022
International Applicants
Application Deadline: 01 February 2022
Transcript Deadline: 01 February 2022
Referee Deadline: 01 February 2022

January 2023 Intake

Application Open Date
15 April 2023
Canadian Applicants
Application Deadline: 15 May 2023
Transcript Deadline: 15 May 2023
Referee Deadline: 15 May 2023
International Applicants
Application Deadline: 15 May 2023
Transcript Deadline: 15 May 2023
Referee Deadline: 15 May 2023

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 supervisor. Please follow the instructions provided by each program whether applicants should contact faculty members.

Instructions regarding 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 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

For Medical Genetics faculty research profiles, see: Faculty Research Summaries.

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$108.00$168.25
Tuition *
Installments per year33
Tuition per installment$1,732.53$3,043.77
Tuition per year
(plus annual increase, usually 2%-5%)
$5,197.59$9,131.31
Int. Tuition Award (ITA) per year (if eligible) $3,200.00 (-)
Other Fees and Costs
Student Fees (yearly)$1,052.34 (approx.)
Costs of living (yearly)starting at $17,126.20 (check cost calculator)
* 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:

MSc and PhD (pre-advancement to candidacy): $24,300
PhD (post-advancement to candidacy): $27,000

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, 27 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 $26,977.
  • 5 students received Teaching Assistantships. Average TA funding based on 5 students was $4,862.
  • 16 students received Research/Academic Assistantships. Average RA/AA funding based on 16 students was $17,972.
  • 27 students received internal awards. Average internal award funding based on 27 students was $6,280.
  • 13 students received external awards. Average external award funding based on 13 students was $18,997.

Study Period: Sep 2019 to Aug 2020 - 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.

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.

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 direction. The duties usually constitute part of the student's graduate degree requirements. A Graduate Research Assistantship is a form of financial support for a period of graduate study and is, therefore, not covered by a collective agreement. Unlike other forms of fellowship support for graduate students, the amount of a GRA is neither fixed nor subject to a university-wide formula. The stipend amounts vary widely, and are dependent on the field of study and the type of research grant from which the assistantship is being funded. Some research projects also require targeted research assistance and thus hire graduate students on an hourly basis.

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 Calculator

Applicants have access to the cost calculator 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

 20202019201820172016
Applications1519253016
Offers23244
New registrations23244
Total enrolment4140423737

Completion Rates & Times

This program has a graduation rate of 90.91% based on 11 students admitted between 2007 - 2010. Based on 9 graduations between 2016 - 2019 the minimum time to completion is 4.00 years and the maximum time is 8.33 years with an average of 5.77 years of study. All calculations exclude leave times.
Disclaimer
Admissions data refer to all UBC Vancouver applications, offers, new registrants for each year, May to April [data updated: 22 April 2021]. Enrolment data are based on March 1 snapshots. Program completion data are only provided for datasets comprised of more than 4 individuals. 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 [data updated: 29 October 2020].

Upcoming Doctoral Exams

Wednesday, 13 October 2021 - 2:00pm

Leanne Amitzi
DDX11 Helicase as a Synthetic Lethal Cancer Therapy Target

Research Supervisors

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 (Genetics, genomics, genetic counseling, psychiatric illness, mental illness, mental health, psychiatry, schizophrenia, bipolar disorder, depression, postpartum depression, perinatal mental health, Mood & Anxiety Disorders, Schizophrenia)
  • 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)
  • Brinkman, Ryan (Bioinformatics, flow cytometry, high throughput data analysis, data standars, GvHD biomarker identification, cluster identification)
  • 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 (Pharmacogenomics; Adverse drug reactions (ADRs); Drug safety and effectiveness; Clinical pharmacology; Pharmacovigilance)
  • Clarke, Lorne (Lysosomal storage disease, disorders or sulfate transport, mucopolysaccharidosis, phenylketonuria)
  • Conibear, Elizabeth (Genetic medicine; Genomics; Health counselling; Cell Signaling and Cancer; Enzymes and Proteins; Genomics and Proteomics; Membranes; Molecular Genetics; Neurodegenerative diseases; Parkinson's disease; Protein Palmitoylation; Vesicle Trafficking)
  • 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)
  • Eaves, Constance Jean (Normal and leukemic stem cells, normal and malignant breast stem cells)
  • Elliott, Alison (Other health sciences; rare disease; genomics; Congenital Malformations; Skeletal and limb anomalies; Genetic Counselling; Health services implementation science)
  • Friedman, Jan Marshall (Bioinformatics; 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)
  • Goldowitz, Daniel (Genetic basis of brain disease, neurobiology of autism, Huntingtong's gene, mouse/mice epigenetics, gene regulatory network)
  • 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 (Bioinformatics; Genetic medicine; Genomics; Medical and biomedical engineering; Developmental Genetics; Embryology; Embryonic Development; Epigenetics; Heart Valve / Valvular Diseases; Heart valve formation; Liver; Liver development; Stem Cells and Organogenesis; transcriptional regulation)
  • Huntsman, David (Corporate Law; Contracts; Competition Law; legal history)
  • Jefferies, Wilfred Arthur (Iron transport molecules)
  • Jiang, Xiaoyan (Cancer drug development and therapeutics; Basic and translational leukemia research; Leukemic stem cell biology; Gene regulation; Drug resistance; Proteomics; Immunotherapy)
  • Jones, Steven J (Bioinformatics, genome science, mutations, cancer progression)

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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
2021 Dr. Refaeli showed that the podocalyxin gene is crucial for developing and maintaining the filtration barrier in the kidney. His dissertation advanced the hypothesis that gene-dosage is key to regulating the resilience of renal filtration cells to environmental stress, and contributed novel tools to study renal disease and test novel therapies.
2021 Dr. Brown used budding yeast as a model to investigate the cellular response to DNA damage, which is highly conserved between yeast and humans. He revised a recently proposed model of the cellular response to DNA damage and discovered that a scaffolding protein called Rtt107 cooperates with different protein partners to prevent mutations.
2021 Dr. Canals Hernaez examined the therapeutic potential of targeting podocalyxin, a protein present in aggressive cancers. She found that this protein displays a unique modification on tumors and developed an antibody-based drug that can kill cancer cells while sparing normal tissue. This research highlights a new and promising target for cancer therapy.
2020 Dr. Al Shekaili generated and characterized a novel mouse model for a human genetic disease known as pyridoxine-dependent epilepsy. The model recapitulated the human disease and uncovered new possible pathological mechanisms. The model can be used for further investigations of the disease mechanisms and to test new therapeutics.
2020 Dr. Kadhim found a new role for MED15, a protein that physically links DNA to proteins which regulate gene expression. His findings suggest that MED15 is critical to make mature, insulin secreting beta cells. Understanding how and why beta cells need MED15 to develop and mature will allow new treatments for diabetes.
2020 Dr. Dixon studied the molecular basis of inherited cancer predisposition. Using novel sequencing technologies, her work demonstrated that specific genetic changes influence normal cell and tissue function to increase disease risk. This research provides insights into the challenges of genetic diagnosis and may improve the care of affected families.
2020 Dr. Collins demonstrated that Inuit children with the p.P479L variant of the gene encoding CPT1A had higher rates of infectious illness and low blood sugar in the first days of life than children without the variant. These results demonstrate how underlying genetic susceptibilities can influence infant and early child health outcomes.
2020 Dr. Tam studied proteins that cut, paste, and re-assemble the messages encoded by DNA for protein assembly called splicing factors, which are frequently mutated in cancers. Using budding yeast and leukemic cell line models, she showed that mutations in these proteins lead to an accumulation of DNA damage, which may contribute to cancer progression.
2020 Dr. Richard Albert studied how each of our two copies of DNA, one from mom and one from dad, are treated differently deep within our cells. His research furthers our understanding of human reproduction and inheritance and will inform biomedical applications such as artificial insemination, stem cell therapies and cloning.
2020 Dr. Jones explored genetic and environmental factors that affect the risk of lymphoid cancers within families. She showed that early life factors that affect immune regulation and development are associated with lymphoid cancer onset in families. Her work has implications for the identification of risk factors for other familial diseases.

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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
 
 

September 2022 Intake

Application Open Date
01 December 2021
Canadian Applicant Deadline
01 February 2022
International Applicant Deadline
01 February 2022

January 2023 Intake

Application Open Date
15 April 2023
Canadian Applicant Deadline
15 May 2023
International Applicant Deadline
15 May 2023
 
Supervisor Search
 

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

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