phd medical genetics

Ph.D. Program

Graduate studies.

The Genetics Ph.D. program provides opportunities for graduate study in all major areas of modern genetics, including identification and analysis of human disease genes, molecular evolution, gene therapy, statistical genetics, application of model organisms to problems in biology and medicine, and computational and experimental approaches to genome biology.

An underlying theme in our Department is that genetics is not merely a set of tools but a coherent and fruitful way of thinking about biology and medicine. To this end, we emphasize a spectrum of approaches based on molecules, organisms, populations, and genomes.

We provide training through laboratory rotations, dissertation research, seminar series, didactic and interactive coursework, and an annual three-day retreat.

Students receive a competitive stipend ($51,600) for the 2023-24 Academic Year), tuition, health insurance, and a dental care stipend for a full four years. We also encourage students to seek additional fellowships, including but not limited to: NSF GRFP , NIH F31 , NDSEG , Stanford Bio-X fellowship , Stanford DARE , and Stanford CEHG Fellowship .

Lab Rotations

Students rotate through 3 laboratories during their first year in the Genetics Graduate Program. While most students start in Fall Quarter, students are encouraged to consider participating in the  Advance Summer Institute  for a smoother early transition into graduate school. There is a nomination & selection process. The department nominates, so if you are interested please let the department student services officer know. The program is not meant to be a source of summer bridge funding or simply an early rotation opportunity. There are many components to the program that require commitment of time and effort and the funding, reflects both the expectation of full participation and belief that participants should be compensated for these efforts. Office of Graduate Education does the selection for ADVANCE. There is no guarantee that if you are nominated that you will be of admitted into ADVANCE.

Rotations typically last one quarter each, but can be less and are contingent upon the faculty member agreeing to the rotation request. All Genetics students must rotate with at least 1 Genetics faculty member (primary or secondary appointment). Other rotations may be done with any Bioscience faculty.

While students may select a thesis laboratory after completing their third rotation, you can do more Selection of the dissertation research laboratory must be done with the faculty member's approval. Prior to committing to a dissertation laboratory, students are invited to discuss their selection with the Graduate Program Director. Students are welcome to join labs outside of the Genetics Department; if so, they will discuss with the Graduate Program Director whether transferring into that department would be beneficial.

Dissertation Research

Once a student selects a permanent laboratory, they begin their dissertation research that will last for approximately four years. All students are expected to publish at least one first-author paper about their research during this time period, and the work culminates with a thesis defense presentation and written dissertation. See the Genetics Student Handbook for more information.

Coursework, Qualifying Exams, and other Requirements

Students in the Genetics Graduate Program take the Qualifying Examination in the Fall Quarter of their second year of study. There are two parts to the exam, a written research proposal and an oral examination.

Ami Bhatt, Dylan Maghini, and collaborators from the University of the Witwatersrand visit with researchers and staff at the MRC/Wits Public Health and Health Transitions Research Unit in Agincourt, South Africa.

Ami Bhatt, Dylan Maghini, and collaborators tour the MRC/Wits Public Health and Health Transitions Research Unit labs and biobank facility in Agincourt, South Africa.

Service Requirement

Service and outreach are a critical component of a student’s development as a scientist, and offer unique opportunities to learn by interacting with individuals outside the Department. Students are expected to participate in a minimum of 60 hours of service and/or outreach work prior to defending their dissertation.

Supplementary Educational Activities

In addition to your courses, qualifying exams, and dissertation, the Genetics Department has arranged additional educational activities for students. These regularly occurring meetings are:

Current Issues in Genetics (CIG) Two people from the Genetics Department give 20-25 minute presentations about their current work at this weekly Friday meeting. Students in their third year and above are expected to present their work annually. This series gives students the chance to learn about the range of science going on in the department and provides a great opportunity to give formal presentations to peers and colleagues. 

Graduate Student Journal Club This weekly journal club is organized completely by graduate students from the Genetics and Developmental Biology Departments. At each meeting, one or two graduate students lead 30 minute discussions on their choice of a recent journal article. For the first three years of the Ph.D. program, each student presents once per academic year.

Refreshments are provided by the graduate students and reimbursed up to the current year limit. Reimbursement requires an original receipt to the Student Services Coordinator.

Frontiers in Biology  Every week, the Departments of Genetics, Developmental Biology, and Biochemistry host an external speaker through the “Frontiers in Biology” seminar series. First year students also take a course related to this seminar (GENE 215), where they discuss a relevant paper the day before and meet the speaker after the presentation. 

Frontiers is held most Wednesdays at 4pm in Clark Auditorium.

Other Seminar Series There are many other regular seminar series on campus that students choose to attend. Some of the most popular include:

Center of Law and the Biosciences lunchtime talks. See CLB events calendar or subscribe to the listserv

Evolgenome (organized by CEHG). See CEHG website or subscribe to the listserv

Teaching and Mentoring Academy Events. See TMA website or subscribe to the listserv

Discussing Developmental Data (3D). See events schedule

Biomedical Seminars. See events schedule or subscribe to the listserv

Requirements

Important forms.

Service Requirement Form Click Here

Other Important Info

Please examine the research interests and laboratory descriptions available from the Department Faculty page.

The Office of Postdoctoral Affairs maintains a list of open postdoctoral positions. This site also provides useful information to those considering postdoctoral positions at Stanford.

Human Genetics and Genomics, PhD

School of medicine, ph.d. program.

The Johns Hopkins Human Genetics Training Program provides a training in all aspects of human genetics and genomics relevant to human biology, health and disease. 

Advances in human genetics and genomics continue at an astounding rate and increasingly they are being integrated into medical practice. The Human Genetics Program aims to educate highly motivated and capable students with the knowledge and experimental tools that will enable them to answer important questions at the interface between genetics and medicine. Ultimately, our trainees will be the leaders in delivering the promise of genetics to human health.

The overall objective of the Human Genetics program is to provide our students with a strong foundation in basic science by exposure to a rigorous graduate education in genetics, genomics, molecular biology, cell biology, biochemistry and biostatistics as well as a core of medically-related courses selected to provide knowledge of human biology in health and disease. 

This program is also offered as training for medical students in the combined M.D./Ph.D. program.  Students apply to the combined program at the time of application to the M.D. program. (See section entitled Medical Scientist Training Program).

Research Facilities

Research laboratories are well equipped to carry out sophisticated research in all areas of genetics. The proximity to renown clinical facilities of the Johns Hopkins Hospital, including the Department of Genetic Medicine, and Oncology Center provides faculty and students with access to a wealth of material for study. Computer and library facilities are excellent. Laboratories involved in the Human Genetics Program span Johns Hopkins University; consequently supporting facilities are extensive.

Financial Aid

The program is supported by a training grant from the National Institute of General Medical Sciences. These fellowships, which are restricted to United States citizens and permanent United States residents, cover tuition, health care insurance and a stipend during year one.  Once a student has joined a thesis lab, all financial responsibilities belong to the mentor.   Students are encouraged, however, to apply for fellowships from outside sources (e.g., the National Science Foundation, Fulbright Scholars Program, Howard Hughes Medical Institute) before entering the program.

Applicants for admission should show a strong academic foundation with coursework in biology, chemistry and quantitative analysis.   Applicants are encouraged to have exposure to lab research or to data science.  A bachelor's degree from a qualified college or university will be required for matriculation.  GREs are no longer required.

The Human Genetics site has up-to-date information on “ How to Apply .” For questions not addressed on these pages, please access the contact imformation listed on the program page: Human Genetics and Genomics Training Program | Johns Hopkins Department of Genetic Medicine (hopkinsmedicine.org) .

Program Requirements

The program includes the following required core courses: Advanced Topics in Human Genetics, Evolving Concept of the Gene, Molecular Biology and Genomics, Cell Structure and Dynamics, Computational Bootcamp,  Pathways and Regulation, Genomic Technologies, Rigor and Reproducibility in Research, and Systems, Genes and Mechanisms of Disease. Numerous elective courses are available and are listed under sponsoring departments.

Our trainees must take a minimum of four electives, one of which must provide computational/statistical training.

The HG program requires the “OPTIONS” Career Curriculum offered by the Professional Development and Career Office.  OPTIONS is designed to provide trainees with the skills for career building and the opportunity for career exploration as well as professional development training

Human Genetics trainees also take a two-week course in July at the Jackson Labs in Bar Harbor, Maine entitled "Human and Mammalian Genetics and Genomics: The McKusick Short Course" which covers the waterfront from basic principles to the latest developments in mammalian genetics. The faculty numbers about 50 and consists roughly in thirds of JAX faculty, Hopkins faculty and “guest” faculty comprising outstanding mammalian geneticists from other US universities and around the world.

The courses offered by the faculty of the program are listed below. All courses are open to graduate students from any university program as well as selected undergraduates with permission of the course director.

Trainees must complete three research rotations before deciding on their thesis lab.  They must also participate in the Responsible Conduct of Research sessions offered by the Biomedical Program; starting at year 3, students must attend at least two Research Integrity Colloquium lectures per year. 

Our trainees participate in weekly journal clubs, department seminars, monthly Science & Pizza presentations as well as workshops given twice a year on diversity, identity and culture.

At the end of the second year, trainees take their Doctoral Board Oral Examination.  Annual thesis committee meetings must be held following successful completion of this exam.

Average time for completion is 5.3 years.

Graduates from the Human Genetics program pursue careers in academia, medicine, industry, teaching, government, law, as well the private sector.  Our trainees are encouraged to explore the full spectrum of professional venues in which their training my provide a strong foundation. Driven by curiosity and a desire for excellence, our trainees stand out as leaders in the chosen arenas of professional life. They are supported in the development of their career plans by a program faculty and administration who are dedicated to their success, and by a myriad of support networks across the Johns Hopkins University, many of which are provided by the Professional Development Career Office of the School of Medicine.

Begin PhD Study in Genetics

Students enter the PhD program through the Indiana BioMedical Gateway (IBMG) Program for PhD Study , which provides a shared first-year experience for all IU School of Medicine biomedical science PhD students. Students have the freedom to explore research areas through three rotations in laboratories across programs and choose entry into any of the ten PhD programs at the conclusion of the first academic year. The open enrollment system enhances the community of graduate students by offering a shared collaborative culture; a vital component of today’s inter-disciplinary nature of biomedical science research.

Students in the Genetics PhD program have the opportunity to participate in medical genetics clinics to facilitate an understanding of the bench to bedside approach to medical science.

Advisory Committee

Each PhD student who declares Medical and Molecular Genetics as their departmental choice will have chosen a major advisor (and advisory committee) by the end of their first year in open admission (by July). The student’s research committee is formed after admission to candidacy to supervise the progress of the student’s research toward the dissertation, evaluate the thesis, and administer the doctoral defense.

Program Requirements

The requirements for graduation from this program include completion of coursework, successful performance on the department qualifying examination, successful defense of a research proposal, completion of an original research project, and defense of the thesis. Helpful degree progression information.

• Coursework Graduates from the program are knowledgeable in the spectrum of medical genetics and take courses in molecular and biochemical genetics, cytogenetics, clinical genetics, and population genetics. All PhD students in Medical and Molecular Genetics are required to take a minimum of 30 hours of course work (of that, six hours are G718 rotations), and the remaining hours are research and seminar credits, for a total of 90 credit hours. A student must maintain an average 3.0 GPA for all coursework; courses with less than a B- do not count toward degree requirements.
• Examination The Qualifying Examination consists of two parts: Part I, Written Comprehensive Exam and Part II, Written Research Proposal and Defense of Proposal.  All parts of the qualifying examination must be passed before candidacy status is awarded, preferably by the end of the third year of graduate school.
• Dissertation A dissertation on a research project in the area of Human/ Medical and Molecular Genetics is required.
• Minor All Medical and Molecular Genetics PhD students are required to complete at least 12 coursework hours in a chosen PhD minor. Medical and Molecular Genetics PhD students who chose the Life Sciences minor using the core open admission curriculum may not count G716 Molecular Biology and Genetics toward the 12 hours of required MMGE coursework. These students need to take an additional three credits to replace G716 used in the Life Sciences minor.

Financial Aid

Vacation/Time-Off

Required Forms

Credit Transfer

• Working Groups
• Faculty Jobs
• Postdoc & Postgrad jobs

Graduate Program

• Fellowship in Laboratory Genetics and Genomics (LGG)
• Clinical Genetics and Genomics Residency Training Program
• Pathway Programs
• Research Labs
• Office for Strategic Research Development
• Bioinformatics
• Project Submission
• Service Fees
• Centers & Affiliations
• Post-Doctoral
• Junior Faculty
• 2021 Recipient
• 2020 Recipient
• 2019 Recipient
• Leadership & Contacts
• Genetics Graduate Student Executive Council
• Committee Roster
• Equity and Inclusion Program (EQUIP)
• What is Clinical Genetics
• Our Clinical Team
• Clinics & Making Appointments
• Impacting COVID-19 Outcomes through Genomics (ICOG)
• Special Events

INFORMATION FOR

• Residents & Fellows
• Researchers

Teaching Responsibilities

Additional responsibilities, md/phd studies, admission & financial aid.

The program of study leading to the PhD degree emphasizes a broad approach to the fundamental principles of genetics, development and molecular biology combined with extensive research training. The program is designed to permit close interaction between graduate students, postdoctoral fellows, and faculty, while also encouraging full participation in the larger community of biological scientists at Yale.

The PhD program in Genetics is designed to provide the student with a broad background in general genetics and the opportunity to conduct original research in a specific area of genetics. The Genetics student is expected to acquire a broad understanding of genetics, spanning knowledge of at least three basic areas of genetics, which include molecular, cellular, organismal, and population genetics. Normally this requirement is accomplished through the satisfactory completion of formal courses, many of which cover more than one of these areas. Students are required to pass at least six graduate level courses.

Students enter the Genetic Graduate Program following the completion of their first year of studies within the BBS Program. Normally students entering the Genetics Graduate Program have selected a faculty thesis advisor with an appointment in the Department of Genetics. Advanced graduate study becomes increasingly focused on the successful completion of original research and the preparation of a written dissertation under the direct supervision of a faculty advisor along with the guidance of a thesis committee.

A qualifying examination is given during the second year of study. This examination consists of a period of directed reading with the faculty followed by the submission of two written proposals and an oral examination. Following the completion of course work and the qualifying examination, the student submits a dissertation prospectus (by the end of the sixth term) and is admitted to candidacy for the PhD degree. There is no language requirement.

The completed research is presented in the form of a written dissertation and a formal seminar. Typically four to six years are required in total to complete work for the PhD degree.

An important aspect of graduate training in genetics is the acquisition of communication and teaching skills. Students participate in presentation seminars and are asked to serve as teaching assistants during two terms (or the equivalent). Teaching duties normally involve assisting in discussion sections, seminar groups or laboratories, and grading, and do not require more than 10 hours per week. Teaching activities are drawn from a diverse menu of lecture, laboratory, and seminar courses given at the undergraduate, graduate, and medical school level. Students are not expected to teach during their first year.

Exchange of information with colleagues is an essential component of scientific life. The Genetics Department hosts a Genetics Journal Club as well as a weekly seminar series. Advanced graduate students present the results of their research to members of the Department in a Research in Progress series each year.

The annual departmental retreat consists of a weekend program of informal research talks, poster sessions, and discussions. This provides an outstanding opportunity to keep up-to-date with the diverse research underway in the department and to participate in vigorous scientific discussions. In addition to these intradepartmental activities, there are many additional seminar programs in which outside speakers from the U.S. and abroad present their work to the Yale scientific community. Students have the opportunity to meet with these guests as well as to select and host seminar speakers. Students are also encouraged to travel to scientific meetings and to present their research.

The breadth of the Program, the flexible nature of its graduate studies, and the increasing recognition of the importance of genetics and development in medicine make this Program ideal for MD/PhD students who wish to pursue a career combining basic and clinical research. Interested students should contact:

Kayla McKay, Registrar, MD/PhD Program Yale School of Medicine 367 Cedar St. New Haven, CT 06510-8046 Tel. 203.785.4403

All the resources for genetic and molecular biology research are available at the University. Major items include the Biomedical Computing Unit, nucleotide and peptide synthesis and sequencing, high throughput microarray technology for functional genomic and proteomic analysis, and facilities for electron microscopy, laser scanning, confocal microscopy, and transgenic mouse and hybridoma construction.

Research laboratories are located throughout the Yale University campus. The Departments of Cell Biology, Genetics, Immunobiology, Microbial Pathogenesis, Neurobiology, Pathology and a portion of Molecular Biophysics & Biochemistry are located in the School of Medicine, while the Molecular, Cellular & Developmental Biology Department, Computational Biology & Bioinformatics, Ecology and Evolutionary Biology, and the balance of Molecular Biophysics & Biochemistry are in the Science Hill area of Yale College.

Research in the biological and biomedical sciences has become increasingly integrated between Yale’s campuses and departments. Research laboratories are located both in the School of Medicine and in the Science Hill area of Yale College. The Molecular Biophysics & Biochemistry Department, as well as interdepartmental programs in Neurobiology and Computational Biology and Bioinformatics, have branches in both campuses. The School of Medicine and Science Hill are within walking and bicycling-distance, and a free shuttle bus operates daily to provide transportation between these sites.

Three newly constructed buildings and renovated spaces have added state-of-the-art facilities to the Yale campus. The Boyer Center for Molecular Medicine at the School of Medicine helps bring together both basic and clinical scientists in areas such as molecular genetics, molecular oncology and development, and molecular neurobiology. The new Anlyan Center for Medical Research and Education houses laboratory space, the new Magnetic Resonance Research Center, the Section of Bioimaging sciences, modern teaching facilities and new animal care facilities. The Nancy Lee and Perry R. Bass Center for Molecular and Structural Biology provides a state-of-the-art teaching and research facility that brings together researchers from throughout the University to study gene expression and protein structure. This four-story structure on Science Hill is linked via bridges to the Sterling Chemistry Laboratory and the Josiah Willard Gibbs Research Laboratory. The Yale Center for Genome Analysis (YCGA) is a state-of-the-art DNA Sequencing Center Launched in 2010 on Yale's West Campus to provide a centralized facility for services, equipment and expertise required for carrying out large-scale sequence analysis studies. Yale has allocated entire building to YCGA with over 7000 sq. ft. of custom-designed laboratory and office space equipped with all modern amenities.

Admission to the Department of Genetics graduate program is through an interest-based track, usually the Molecular Cell Biology, Genetics & Development Track (MCGD) in the Combined Program in the Biological and Biomedical Sciences (BBS) . Appropriate preparation for graduate study in Genetics includes a bachelor’s degree in the natural sciences including course work in biology, chemistry, and mathematics. Almost all successful applicants have undergraduate or postgraduate research experience and have completed courses in genetics, biochemistry, or molecular and cell biology.

Approximately 25 new students enter the Molecular Cell Biology, Genetics and Development Track (MCGD) Track each year. Admission is competitive and is based on evaluation by an admissions committee of academic performance, potential, and letters of recommendation. The top applicants are invited to New Haven at the program's expense for a day of introduction and interviews to assist in the admissions decision.

Students accepted into our graduate program receive a full tuition scholarship including health coverage and a yearly allotment for travel to scientific meetings. All students also receive a stipend for living expenses for the duration of their graduate studies. In most cases, tuition and stipend funds are from predoctoral training grants awarded to Yale by the National Institutes of Health.

Financial aid from international students is extremely competitive and is arranged on an individual basis. International applicants are strongly urged to apply for scholarships or funding from their government or other agencies. Prospective students should submit a completed application form (download application forms), transcripts, graduate records exam scores, and letters of recommendation to the Office of Graduate Admissions by that date. International applicants are also required to submit scores on the Test of English as a Foreign Language (TOEFL). Applications and further information may be obtained by contacting the following office:

Office of Graduate Admissions Yale University PO Box 208323 New Haven, CT 06520-8323 USA

Important Documents

• Graduate School
• Prospective Students
• Graduate Degree Programs

Doctor of Philosophy in Medical Genetics (PhD)

Go to programs search

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).

For specific program requirements, please refer to the departmental program website

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.

We are all able to come together, share our different perspectives, and learn from them. I think that’s outstanding.

Kevin Jeffers

Quick Facts

Program enquiries, 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:

• Canada or the United States
• International countries other than the United States

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

IELTS: International English Language Testing System

Overall score requirement : 7.5

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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

September 2024 intake, application open date, canadian applicants, international applicants, january 2025 intake, deadline explanations.

Deadline to submit online application. No changes can be made to the application after submission.

Deadline to upload scans of official transcripts through the applicant portal in support of a submitted application. Information for accessing the applicant portal will be provided after submitting an online application for admission.

Deadline for the referees identified in the application for admission to submit references. See Letters of Reference for more information.

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)

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

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

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

• 9 students received Teaching Assistantships. Average TA funding based on 9 students was $5,726.
• 22 students received Research Assistantships. Average RA funding based on 22 students was $16,195.
• 4 students received Academic Assistantships. Average AA funding based on 4 students was $2,170.
• 29 students received internal awards. Average internal award funding based on 29 students was $10,523.
• 10 students received external awards. Average external award funding based on 10 students was $24,067.

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 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:

Sample Employers in Higher Education

Sample employers outside higher education, sample job titles outside higher education, phd career outcome survey, 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:

• Assistant Professor / Associate Clinical Professor, etc.
• Principal Investigator
• Canada Research Chair
• 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
• Clinical Molecular Geneticist and Cytogeneticist
• Research Program Manager
• Online Marketing Coordinator
• Scientific Sales Representative
• Research and Development Scientist

Alumni on Success

Job Title Scientist

Employer The Hospital for Sick Children

Job Title Teaching Professor/ Affiliate Professor of Teaching

Employer University of Victoria/ University of British Columbia

Steven Maltby

Job Title Research Academic

Employer Hunter Medical Research Institute & The University of Newcastle

Obi Griffith

Job Title Assistant Professor

Employer Washington University School of Medicine

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

Completion rates & times, upcoming doctoral exams, thursday, 7 december 2023 - 12:30pm - 101, michael smith laboratories, 2185 east mall, tuesday, 12 december 2023 - 10:00am.

• Research Supervisors

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 (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)
• 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)
• 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)
• Evgin, Laura
• 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)

Doctoral Citations

Sample thesis submissions.

• Membrane contact site targeting and functions of Vps13 and related bridging lipid transporters
• Novel approaches for therapeutic modulation of gene expression in Huntington's disease
• Identification and functional analysis of the endosomal VINE complex in Saccharomyces cerevisiae
• Polycomb repressive complex 2 related syndromes : functional studies of human gene variants In Drosophila
• Therapeutic genome editing for the treatment of genetic diseases : testing the safety and effectiveness of CRISPR/Cas9 therapeutic base editing
• Investigating and identifying genetic predictors for cisplatin-induced hearing loss and anthracycline-induced cardiotoxicity
• Characterization of the lympho-neutrophil/monocyte restriction process in human cells
• An investigation of the role of pharmacogenetics in the development and prevention of anthracycline-induced cardiotoxicity
• The Caenorhabditis elegans nuclear hormone receptor NHR-49 functions in stress response pathway regulation
• Investigating the role of transcriptional coactivator MED15 in beta cell maturation
• Assessment of biological markers to aid subtype classification in pediatric primary systemic vasculitis
• Associations of DNA methylation with individual differences in Parkinson's disease susceptibility
• Successful gene editing in a novel mouse model of aniridia towards prevention of blindness
• Functional characterization of Mest and its imprinted gametic differentially methylated region
• Role of caspase-3 in supporting normal and malignant human mammary cells

Related Programs

Same specialization.

• Master of Science in Medical Genetics (MSc)

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:

• Clinical Genetics, Genetic Counselling and Ethics & Policy
• Developmental Genetics
• Neurogenetics & Neurodegenerative Disease Genetics
• Stem Cells & Gene Therapy

UBC Calendar

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

I was looking for professors that were asking questions I was interested in. It so happened that quite a few of them were affiliated with UBC and were part of the vibrant and supportive academic community here. UBC also offers many scholarships and fellowships to help fund your PhD which was very...

Sharri Cyrus

I wanted to ensure, that I would be a highly competitive candidate for future pursuits after my PhD. UBC fulfilled this requirement as being a top university in the world, with a reputation of research excellence. Additionally, I wanted to study in a place that would offer a new experience;...

Khair Mufti

UBC is one of the top universities for research and teaching in Canada and around world. As I wanted to unite my background in pharmacology with my research passion and experience in Genetics to pursue my doctoral research in Pharmacogenomics, I found that UBC provides an excellent opportunity to...

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Human Medical Genetics and Genomics

Graduate program, a note from the director, tamim h. shaikh, phd.

The Human Medical Genetics and Genomics Graduate Program (HMGGP) at CU Anschutz is an interdisciplinary, interdepartmental program designed to coordinate outstanding graduate training and research opportunities in all aspects of Human and Medical Genetics. I and the HMGGP faculty are committed to a dynamic and outstanding program that provides training and mentorship to the next generation of leaders in the fields of human and medical genetics and genomics.

The Human Genome Project and a diverse group of technological advances have brought about a revolution in almost all fields of medicine and biomedical research. The availability of genomic DNA sequences of humans and other species has enabled discovery of genes critical to development and disease and genetic variations that predispose to common debilitating diseases. Furthermore, tests to rapidly identify genetically susceptible individuals are being developed, and new technologies to treat or even prevent these diseases are being brought on line. Genetics and genomics provides the foundation for “Precision” or "Personalized" medicine which will bring about improved health, longevity, and quality of life.

It is the mission of the Human Medical Genetics and Genomics Graduate Program to be at the forefront of this revolution. The Human Medical Genetics and Genomics Graduate Program builds on close engagement with our students, who are integral to our ongoing mission to build towards the future. The Program is continually adding new Training Faculty, providing students with an outstanding group of scientists from whom to select as Thesis Advisors and mentors. Our goal is to provide students a world-class graduate training experience in an interactive and collaborative environment that allows for an individualized learning experience. 

Student Learning Objectives

The PhD program in Human Medical Genetics trains graduate students to become proficient and successful investigators who are able to:

• Demonstrate a basic knowledge of central concepts in the biomedical sciences.
• Understand current concepts in human genetics and genomics.
• Read and critically evaluate the scientific literature.
• Formulate hypotheses based on current concepts in the field and design, conduct, and interpret their own research projects.
• Present research results in peer-reviewed publications and in a dissertation.
• Communicate research results effectively through oral presentations at scientific seminars, conferences, and other venues.
• Write a competitive application for research funding.
• Develop ancillary skills, where necessary, to obtain positions outside of scientific research.

​Student Support

Students accepted in the PhD program are provided full tuition, health and dental insurance, and a stipend of $34,000 per year for living expenses (for the academic year 2022-2023). Continued support is contingent upon satisfactory academic and research performance by the student. When a student enters a thesis lab, the thesis mentor assumes complete responsibility for the student’s stipend, tuition, fees, and associated research costs.

Program Curriculum

The HMGGP graduate curriculum includes didactic courses, laboratory rotations, a seminar series, and a seminar-based discussion group. The heart of the first-year curriculum are basic core courses taken by all students in a number of different graduate Programs at CU, including Microbiology, Molecular Biology, Biochemistry, Cell and Developmental Biology, and Human Medical Genetics and Genomics during the fall semester. These courses serve as a basic science bridge to the more specific content of Human Medical Genetics and Genomics.

Research rotations are designed to introduce students to different areas of research and methodologies, to teach a variety of approaches to scientific problem solving, and to provide the opportunity to explore various laboratories as potential homes for thesis research. Students will complete three 10-week rotations with members of the Human Medical Genetics and Genomics Program Training Faculty.

Program Handbook

For detailed information about the program, curriculum, and degree requirements, please review our  Program Handbook .

Frequently Asked Questions

What are the first year of classes like, what is the attitude of professors, how’s the weather.

Great. It’s not as cold and snowy in the winter as some news stories would lead you to believe. There’s lots of snow in the mountains (great if you ski), but it usually doesn’t hit the city. When it does, it melts quickly. Summer is wonderful; pretty warm in July and August, but very low humidity. And, of course, there are the mountains to play in.

Weather Statistics for Denver, CO

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• Department of Health and Human Services
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Graduate Medical Education (GME): Medical Genetics and Genomics Residency

Program Director: Oleg Shchelochkov, MD

Overview The NIH Medical Genetics and Genomics Residency is for physicians (MD, DO, or equivalent) seeking training in clinical genetics. The primary goal of the program is to train physicians to become highly-skilled and independent medical geneticists, prepared to deliver state of the art clinical genetics and genomic services, and to perform clinically relevant and translational research. The program requires a three-year commitment.

Program Structure The first two years of the Residency fulfills requirements of the American Board of Medical Genetics and Genomics (ABMGG) and the Accreditation Council for Graduate Medical Education (ACGME). This includes 18 months of clinical/laboratory training and 6 months of research. Clinical training includes the rare and diverse patient population at NIH, as well as rotations through outstanding clinical programs within the metropolitan areas of Washington D.C. and Baltimore. Rotations outside of NIH provide extensive experience with common genetic disorders in pediatric and adult populations.

The third funded year of training can either be spent conducting research relevant to the fields of Medical Genetics and Genomics or by completing training in an additional genetics sub-specialty (e.g., Medical Biochemical Genetics Fellowship).

Additional Information Additional information about the Residency in Medical Genetics and Genomics, Program Staff and Faculty and current clinical protocols can be obtained through the NHGRI website .

Application Information Applications should be submitted through the Electronic Residency Application Service (ERAS) . The NIH Medical Genetics and Genomics Residency participates in the Medical Genetics Residency MATCH (NRMP code 2006130F0). Applicants must be U.S. citizens, green card holders or foreign nationals (with a valid visa) and have completed 3 years of a U.S. ACGME-accredited residency prior to their start date within the program.

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This page last updated on 11/04/2022

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University of Colorado Denver | Anschutz Denver | Anschutz Medical Campus

2023-2024 academic catalog, human medical genetics & genomics (phd).

The Human Medical Genetics and Genomics Graduate Program (HMGGP) at CU Anschutz is an interdisciplinary, interdepartmental program designed to coordinate outstanding graduate training and research opportunities in all aspects of Human and Medical Genetics. The HMGGP faculty are committed to a dynamic and outstanding program that provides training and mentorship to the next generation of leaders in the fields of human and medical genetics and genomics.

To learn more about the PhD in Human Medical Genetics & Genomics , please click here to view the information within the School of Medicine portion of the academic catalog.

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PhD in Genetics & Genomics

For contact information, please visit the Graduate Program in Genetics & Genomics website .

The Graduate Program in Genetics & Genomics aims to teach our students not only how to apply the approaches of hypothesis-testing genetics and hypothesis-generating genomics to biomedical research, but also how to function as active members of the scientific community who can clearly communicate ideas, critically evaluate biomedical research, and mentor others in scientific scholarship.

Learning Outcomes

The doctoral programs in Graduate Medical Sciences at BU Chobanian & Avedisian School of Medicine are designed to train scholars to be leaders in their respective fields of biomedical research. Trainees become fluent in their areas of specialization, as well as develop competencies that provide the foundation for lifelong learning and practice in their chosen field. Trainees will demonstrate and apply the professional and scientific skills necessary to benefit society. The program objectives are delineated below.

By graduation, a Genetics & Genomics PhD student will:

• Generate an original body of work in the biomedical sciences that reflects critical thinking and independent thought.
• Demonstrate competencies in advanced research skills and critical thinking.
• Develop the ability to communicate both through writing and orally within their chosen field of expertise, with specialists and non-experts.
• Demonstrate a commitment to professional development and continued learning in their chosen field.

Toward this end, we have designed a complementary set of degree requirements to meet these goals consisting of traditional coursework, journal clubs, seminar series, and a research proposal–based qualifying examination for PhD students. The coursework will be completed during the first two years of study. Students matriculate in September of their first year as Program in Biomedical Sciences (PiBS) PhD students, and they choose their degree-granting program at the end of their first year. The academic program requirements below reflect the combined program of study.

Please see the general description of the MD/PhD program for combined degree requirements.

Course Requirements

• GMS FC 708 Professional Development Skills
• GMS FC 711 Foundations in Biomedical Sciences I: Protein Structure, Catalysis, and Interactions
• GMS FC 712 Foundations in Biomedical Sciences II: Structure and Function of the Genome
• GMS FC 713 Foundations in Biomedical Sciences III: Architecture and Dynamics of the Cell
• GMS FC 714 Foundations in Biomedical Sciences IV: Mechanisms of Cell Communication
• GMS FC 715 Foundations in Biomedical Sciences V: Translational Genetics and Genomics or  GMS MM 710 Stem Cells and Regenerative Medicine
• GMS FC 721 Statistical Reasoning for the Basic Biomedical Sciences
• GMS FC 764 Professional Presentation Skills
• GMS GC 716 Social, Cultural, and Ethical Issues in Genetics, ENG BF 752 Legal and Ethical Issues of Science and Technology,  or GMS GE 706 Deconstructing Systemic Bias: Where Biology Ends and Bias Begins
• GMS GE 701 Principles of Genetics and Genomics
• GMS GE 703 Genetics and Genomics Colloquium I
• GMS GE 704 Genetics and Genomics Colloquium II
• 4 elective credits

For MD/PhD Candidates:

• GMS GC 716 Social, Cultural, and Ethical Issues in Genetics, ENG BF 752 Legal and Ethical Issues of Science and Technology, or GMS GE 706 Deconstructing Systemic Bias: Where Biology Ends and Bias Begins

See Courses for detailed descriptions.

Laboratory Rotations

Our PhD candidates participate in a minimum of three laboratory rotations to ensure exposure to a variety of scientific approaches. These rotations will last 10 weeks each, with one during the fall semester and two during the spring semester. The rotations are organized during the first year of study while the students are PiBS students and before they officially join the Graduate Program in Genetics & Genomics. PiBS students begin their first year of studies in the fall semester and join their degree-granting program at the end of the spring of their first year. Due to time constraints, MD/PhD students will have the option of joining a dissertation laboratory after two rotations. The academic and research components of the program together typically take 5–6 years of full-time academic study to complete for PhD students, and 4–5 years for dual degree MD/PhD students.

Teaching Requirement

Upon successful completion of the core courses, PhD students serve as teaching assistants (TAs) for one of the program’s courses. The TAs will lead discussion and review sections as well as support exam and homework grading. The TA assignments will be made according to academic performance in the courses in question and with student input. Acting as a TA for one course will satisfy the teaching requirement for the PhD degree, but further teaching opportunities will be available for students who are interested in developing these skills.

The Qualifying Process

Successful completion of the coursework and rotations during the first two years of graduate study will prepare the PhD students to advance to PhD candidacy through the qualifying process. This process depends on the following sequence of events:

• Completion of all required core and elective courses with a passing grade (A to B– average for all courses, with the exception of 900-level courses [research credits], which are graded on a Pass/Fail scale).
• Skilled preparation of a 5–10-page, written, grant-style dissertation proposal based on the dissertation research. This portion of the qualifying process will satisfy the written qualification requirement of the Division of Graduate Medical Sciences.
• Expert performance in an oral examination based on the written proposal. This forum will test the student’s ability to think critically about the area of their dissertation research and about biological problems in general. The examining panel will also be free to explore outside topics in order to assess the student’s knowledge of genetics and genomics broadly. The examining panel will be chosen by the student and dissertation advisor based on related areas of expertise to the proposed dissertation research. The panel will be composed of five faculty members, three members who must be faculty of the Graduate Program in Genetics & Genomics and two additional members who are faculty members at Boston University but outside the program. The examining panel will be required to adhere to the written guidelines of the Qualifying Examination Format Committee to ensure equitable administration of the exam.

Dissertation Research

Upon advancing to PhD candidacy, graduate students will focus on their dissertation research. This research will be conducted under the supervision of their chosen graduate advisor. The student will be responsible for conducting a rigorous, in-depth program of investigation into an area of research that is within the scope of their graduate advisor’s expertise and interests. The student’s progress will be assessed continuously by the graduate advisor and annually by a Dissertation Advisory Committee. This committee will be composed of the student’s advisor and at least four other faculty members with a minimum of two faculty members from the Graduate Program in Genetics & Genomics and one division faculty member from an outside program. The Dissertation Advisory Committee will serve to provide outside perspectives on the research program.

While the student is conducting dissertation research, they are expected to actively participate in program seminar series, lab meetings, and other research activities of their dissertation lab. It should be noted that the Boston University Genome Science Institute hosts seminars, including talks from prominent scientists from other institutions as well as talks from scientists with overlapping interests to the program here at BU. Students also have the opportunity to interact more privately with visiting seminar speakers through organized student lunch forums. Students and post-docs also participate in a Research in Progress series of seminars that gives trainees an opportunity to share their research and to learn more about the science going on in the Genetics & Genomics community of Boston University. Furthermore, students will be expected to complete the certificate program in “The Responsible Conduct of Research” that is currently available to the Chobanian & Avedisian School of Medicine  through a series of four 2-hour workshops.

Although the period of dissertation research will not be limited in maximal duration, it is the job of the Dissertation Advisory Committee to facilitate expeditious progress toward the PhD degree. Once the research has developed into several chapters of publication quality work, the advisory committee will ask the student to begin compiling their written dissertation, and a date for the Graduate Medical Sciences public seminar and formal dissertation defense will be scheduled. The public seminar will be delivered to a general audience of Graduate Medical Sciences faculty, students, and researchers. Later that day, the public seminar will be followed by a formal dissertation defense, which will occur behind closed doors in the presence of the Dissertation Advisory Committee. This committee will evaluate the student’s dissertation defense and written dissertation for satisfactory completion of the degree requirements.

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PHD, Genetics

Our program brings together a broad array of faculty in many areas of molecular genetics, evolutionary biology, and genomics into one group. A graduate degree in Genetics from UGA will put you at the forefront of this scientific revolution.

Degree Type: Doctoral

Degree Program Code: PHD_GENE

Degree Program Summary:

Research in genetics has brought about one of the major scientific revolutions of humankind. The advent of recombinant DNA technology provided the tools to isolate, sequence and characterize genes, the building blocks of life. Evolutionary biology has allowed us to reconstruct the history and selective pressures acting to shape those genes. In the past ten years, a remarkable synthesis of molecular and evolutionary genetics has taken place and created the field of genomics, which promises unprecedented scientific breakthroughs in medicine and agriculture. Our program is unique in that it brings together a broad array of faculty in many areas of molecular genetics, evolutionary biology, and genomics into one group. A graduate degree in Genetics from the University of Georgia will put you at the forefront of this scientific revolution.

The Department of Genetics offers a graduate program leading to the PhD degree. The department is particularly strong in the areas of recombinant DNA technology, gene regulation, prokaryotic molecular genetics, plant molecular biology, mammalian genetics, evolutionary genetics, and population genetics. After a student is admitted, a faculty advisory committee is appointed to recommend a program of study based on the individual student’s academic background and research interests. A master’s degree is not required for entrance into the doctoral program, and students without a master’s degree are encouraged to enter the doctoral program directly.

Physical facilities available for research include all modern equipment and facilities necessary for research in the various areas of genetics. Special on-campus facilities include a DNA and protein sequence and synthesis facility, a molecular marker analysis facility, a complete electron and confocal microscopy laboratory, controlled-environment equipment, equipment for radioisotope studies, a special fermentation facility, a monoclonal antibody production facility, and extensive computer facilities. Cooperative arrangements for joint research exist with such off-campus facilities as the Russell Agricultural Research Center, the Yerkes Primate Center, the Sapelo Island Marine Institute, the Savannah River Ecology Laboratory, and the Oak Ridge National Laboratory.

Prospective students should address inquiries to the Graduate Coordinator, Department of Genetics. E-mail: [email protected]. Our World Wide Web address is genetics.uga.edu. Graduate doctoral students in the department are eligible for a number of university fellowships and research and teaching assistantships. Interested applicants primarily apply through the Integrated Life Sciences program, although some students may choose to enter through the Integrated Plant Sciences program.

Locations Offered:

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Franklin College of Arts & Sciences

346 Brooks Hall Athens, GA 30602

706-542-8776

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Program Deadlines:

The deadline for applications is December 1. Students are normally only admitted at the beginning of the fall semester.

Graduate Coordinator(s):

Bob Schmitz

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Best Global Universities for Molecular Biology and Genetics

The best universities for molecular biology and genetics have shown strength in producing research on a variety of topics associated with basic and applied genetics, as well as cell functionality. Students may study topics including basic and applied genetics, mechanisms of mutagenesis, clinical genetics, patterns of inheritance, and molecular genetics. These are the world's top universities for molecular biology and genetics. Read the methodology »

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Here are the best global universities for molecular biology and genetics

Harvard university, massachusetts institute of technology (mit), stanford university, university of california san francisco, university of washington seattle, university of pennsylvania, johns hopkins university, university of california san diego, cornell university, university of cambridge.

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• # 1 in Best Universities for Molecular Biology and Genetics
• # 1 in Best Global Universities

Founded in 1636, Harvard University is the oldest higher education institution in the U.S. The bulk of Harvard's... Read More

• # 2 in Best Universities for Molecular Biology and Genetics
• # 2 in Best Global Universities

Massachusetts Institute of Technology, founded in 1861, is located in Cambridge, Massachusetts, near Boston. Around... Read More

• # 3 in Best Universities for Molecular Biology and Genetics
• # 3 in Best Global Universities

Stanford University was founded in 1885 and is located in California’s Bay Area, around 30 miles south of San Francisco... Read More

• # 4 in Best Universities for Molecular Biology and Genetics
• # 16 in Best Global Universities  (tie)

The University of California—San Francisco is a public institution that was founded in 1864. The health sciences-focused... Read More

• # 5 in Best Universities for Molecular Biology and Genetics
• # 6 in Best Global Universities

The University of Washington is a public institution that was founded in 1861. The school's oldest and largest campus in... Read More

• # 6 in Best Universities for Molecular Biology and Genetics
• # 15 in Best Global Universities

The University of Pennsylvania, also known as Penn, was founded in 1740. The private, Ivy League institution is located... Read More

• # 7 in Best Universities for Molecular Biology and Genetics
• # 10 in Best Global Universities

Johns Hopkins University is a private institution that was founded in 1876. The school has campuses located in and... Read More

• # 8 in Best Universities for Molecular Biology and Genetics
• # 20 in Best Global Universities

The University of California—San Diego is a public institution that was established in 1960. It is located in the La... Read More

• # 9 in Best Universities for Molecular Biology and Genetics
• # 21 in Best Global Universities

Cornell University is a private institution that was founded in 1865. The Ivy League school is located in Ithaca, New... Read More

• # 10 in Best Universities for Molecular Biology and Genetics
• # 8 in Best Global Universities

The University of Cambridge, located around 60 miles north of London, traces its history back to 1209. Around 19,000... Read More

BH4-deficient hyperphenylalaninemia in Russia

Affiliations.

• 1 Research Centre for Medical Genetics, Moscow, Russia.
• 2 Federal State Budgetary Institution of Medical Department of Moscow "Morozov Children's City Clinical Hospital of Medical Department of Moscow", Moscow, Russia.
• 3 Municipal Autonomous Health Care Institution of the Order of the Red Banner of Labor "Clinical Hospital № 1", Chelyabinsk, Russia.
• 4 Saint Petersburg State Public Health Institution "Medical Genetic Diagnostic Center", Saint Petersburg, Russia.
• 5 Saratov Regional Children's Clinical Hospital, Saratov, Russia.
• 6 Genomed, Moscow, Russia.
• PMID: 33822819
• PMCID: PMC8023510
• DOI: 10.1371/journal.pone.0249608

A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketonuria) patients-dietary treatment-and do not receive substitutive BH4 therapy until the diagnosis is confirmed by molecular genetic means. In this study, we present a cohort of 30 Russian patients with HPABH4 with detected variants in genes causing different types of HPA. Family diagnostics and biochemical urinary pterin spectrum analyses were carried out. HPABH4A is shown to be the prevalent type, 83.3% of all HPABH4 cases. The mutation spectrum for the PTS gene was defined, the most common variants in Russia were p.Thr106Met-32%, p.Asn72Lys-20%, p.Arg9His-8%, p.Ser32Gly-6%. We also detected 7 novel PTS variants and 3 novel QDPR variants. HPABH4 prevalence was estimated to be 0.5-0.9% of all HPA cases in Russia, which is significantly lower than in European countries on average, China, and Saudi Arabia. The results of this research show the necessity of introducing differential diagnostics for HPABH4 into neonatal screening practice.

Publication types

• Research Support, Non-U.S. Gov't
• Case-Control Studies
• Phenylalanine Hydroxylase / deficiency*
• Phenylketonurias / epidemiology*
• Phenylketonurias / genetics
• Phenylketonurias / pathology
• Phosphorus-Oxygen Lyases / deficiency*
• Phosphorus-Oxygen Lyases / genetics
• Retrospective Studies
• Russia / epidemiology
• Phenylalanine Hydroxylase
• Phosphorus-Oxygen Lyases
• 6-pyruvoyltetrahydropterin synthase

Supplementary concepts

• 6-pyruvoyl-tetrahydropterin synthase deficiency
• Hyperphenylalaninemia, BH4-Deficient, B

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