phd healthcare genetics and genomics

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.

Ph.D. in Genetics and Genomics

General info.

• Faculty working with students: 100
• Students: 64
• Students receiving Financial Aid: 100%
• Part time study available: No
• Application terms: Fall
• Application deadline: November 30

Website:  http://upg.duke.edu

Program Description

The program provides a unified curriculum of study in genetics and genomics leading to the Ph.D. Areas of specialization include population and evolutionary genetics, microbial and viral genetics, human and mammalian genetics, developmental genetics, epigenomics, and plant genetics. This is an interdisciplinary program with faculty drawn from several departments (Biochemistry, Biology, Cell Biology, Chemistry, Molecular Genetics and Microbiology, Immunology, Neurobiology, Pathology and Pharmacology and Cancer Biology) as well as from the Institute of Molecular Physiology.

• Genetics and Genomics: PhD Admissions and Enrollment Statistics
• Genetics and Genomics: PhD Completion Rate Statistics
• Genetics and Genomics: PhD Time to Degree Statistics
• Genetics and Genomics: PhD Career Outcomes Statistics

Application Information

Application Terms Available:  Fall

Application Deadline:  November 30

Graduate School Application Requirements See the Application Instructions page for important details about each Graduate School requirement.

• Transcripts: Unofficial transcripts required with application submission; official transcripts required upon admission
• Letters of Recommendation: 3 Required
• Statement of Purpose: Required
• Résumé: Required
• GRE Scores: GRE General (Optional)
• English Language Exam: TOEFL, IELTS, or Duolingo English Test required* for applicants whose first language is not English *test waiver may apply for some applicants
• GPA: Undergraduate GPA calculated on 4.0 scale required

Department-Specific Application Requirements (submitted through online application)

Writing Sample None required

Additional Components Optional Video Essay: How would a Duke PhD training experience help you achieve your academic and professional goals? Max video length 2 minutes; record externally and provide URL in application.

We strongly encourage you to review additional department-specific application guidance from the program to which you are applying: Departmental Application Guidance

List of Graduate School Programs and Degrees

• Seeking Patient Care?
• Graduate Studies
• Doctoral Programs

Human Genetics and Genomics (Ph.D.)

Application process.

The Interdepartmental Ph.D. Program in Human Genetics and Genomics (HGG) is a multidisciplinary program aimed at training scientists broadly in areas of human genetics and genomics relevant to human health and disease. All students receive training in three core competencies: molecular, computational, and clinical genetics. Students are exposed to all aspects of human genetics research, from the patient to the underlying mechanism. Students are prepared to be the next generation of genomic scientists with various skills, e.g., induced pluripotent stem cells, animal modeling, family studies, and large-scale population-based datasets. They are also trained to translate their research results into improved medical care and public health interventions.

This program is a perfect fit for students from many scientific disciplines (such as biology, chemistry, biochemistry, mathematics, and computer science) who wish to train in molecular or statistical genetics. Our focus on genetics and genomics as applied to human diseases and traits makes this program unique; such focus is currently not present in other departmental or interdepartmental programs. The program includes a clinical training component, whereby students will rotate through medical genetics clinics and observe the application of human genetics in a health care setting. This activity will be coordinated with the existing Medical Genetics residency program and provide an opportunity for Ph.D. students to interact with M.D. medical geneticists.

Why a Ph.D. in Human Genetics and Genomics?

Key areas of research, dr. john t. macdonald foundation department of human genetics, john p. hussman institute for human genomics.

Human Genetics and Genomics offers a comprehensive program that prepares Ph.D. trainees for the challenges of modern science. I loved the clinical genetics rotation and the teaching module. I learned bioinformatics and worked in a molecular biology lab having state-of-the-art technology and supportive advice at hand. All in one program, all in the sunny and vibrant city of Miami. 

• Prospective Students
• Current Students
• Residents & Fellows
• Give to SMHS

Integrated Biomedical Sciences (IBS)

Genomics & bioinformatics phd program.

The PhD in Genomics and Bioinformatics is designed to develop research scientists who apply principles and methods in genomics and bioinformatics to the study of human diseases.

The PhD in Genomics and Bioinformatics provides research training areas that reflect GW faculty expertise which includes DNA/RNA sequence analysis, algorithm development, cloud computing optimization, informatics platform development, biomarker discovery, microbiome, retrovirology (HIV/AIDS), autism spectrum disorders, muscular dystrophies, cancer genomics, glycoinformatics, microRNA processing, protein trafficking, and dysregulation of mitochondrial functions. Faculty are drawn largely from the GW School of Medicine and Health Sciences and Children’s Research Institute of Children’s National Health System.

Students have access to the state of the art technologies in genomics, proteomics, microscopy, bioinformatics, pre-clinical drug trials and multi-site clinical trial networks. Resources include the GW  Genomics Core , the GW  Biorepository  resource of biospecimens and clinical data, the  McCormick Genomic  and Proteomic Center, and  Colonial One  (the GW High Performance Computing Cluster), as well as cutting-edge core facilities for flow cytometry, imaging, and pathology.

PhD programs in the biomedical sciences are designed to meet key goals in contemporary graduate research education including 1) discipline-specific knowledge, 2) research skill development, 3) research communication skills, 4) research leadership, 5) research professionalism, and prepare graduates for a variety of science careers. To apply, please visit  IBS Admissions .

The PhD in Genomics & Bioinformatics begins with interdisciplinary coursework in molecular, cellular, and systems biology in the first semester. In the second and third semester students take a comprehensive introduction to the conceptual and experimental underpinnings of computational biology, statistics, genetics, and DNA sequencing. Career development coursework in scientific writing, oral communication, and research ethics; and laboratory rotations offered through GW’s Integrated Biomedical Sciences curriculum. Following required laboratory rotations, students work with their research advisor and the Graduate Program Directors to complete remaining Genomics & Bioinformatics degree requirements, including the dissertation.

Genomics and Bioinformatics Core:

• GENO 8231: Introduction to Genomics, Proteomics, and Bioinformatics
• GENO 8232: Computational Biology and Bioinformatics - Principals and Practices
• GENO 6223: Bioinformatics
• GENO 6237: Proteomics & Biomarkers
• GENO 8998: Advanced Reading and Research Seminar Course
• GENO 8999: Dissertation Research

Some Suggested Electives:

• BIOC 6240: Next Gen Sequencing.
• PUBH 6277: Public Health Genomics
• BMSC 8219: Writing the Grant-Style Qualifier

Seminars/Journal Clubs:

CTSI-CN Informatics Seminar Series

Complete grant-style qualifier examination, advance to candidacy

Graduate Program Directors:

Ljubica Caldovic, PhD Assistant Research Professor of Genomics and Precision Medicine Children's National Health System; GWU [email protected]

Raja Mazumder, PhD Professor of Biochemistry and Molecular Medicine GWU, Ross Hall 540 [email protected]

How to apply  to the IBS and Genomics and Bioinformatics PhD Program For IBS Application Questions contact Colleen Kennedy, IBS Program Manager

The Duke University Program in Genetics and Genomics (UPGG) is an umbrella graduate training program that spans several basic science and clinical departments and bridges the Medical Center and the College of Arts and Sciences. UPGG was founded in 1967 and supported by a continuous NIH training grant (Genetics & Genomics Training Grant 5T32GM007754) for more than 35 years and running.

Contact Information

3 Genome Court MSRB 3, Room 1264 Box 103855 Durham, NC 27705

How to Apply

Student Directory

Student Resources

• MD | PhD Program
• Master's Programs
• PhD Programs
• Postdoctoral Fellows
• Residency & Fellowship
• Non-Degree Programs
• Visiting Students
• Campus Life at U-M
• Health & Wellness
• Building Your Community
• Accessibility & Disability
• Departments
• Centers & Institutes
• Interdisciplinary Programs
• Facts & Figures
• Medical School Leadership
• Research at the U-M Medical School
• News & Stories
• Requirements
• Interview Day
• Admissions Chats
• AAMC Michigan's 35 Answers
• AAMC Michigan's 10 Financial Aid Answers
• Admitted Students
• Overview & Highlights
• Patient Interaction
• Chief Concern
• Years 3 & 4
• Learning Informatics
• Training Sites
• Leadership Program
• Global Health & Disparities
• Health Policy
• Healthcare Innovation
• Medical Humanities
• Patient Safety & Quality Improvement
• Scientific Discovery
• Doctoring Course
• Evidence-Based Medicine
• Interprofessional Education
• DEIAJ Curriculum
• Language Opportunities
• Curriculum Diagrams
• Grading & Assessments
• Guideline Budget
• Loans & Eligibility
• Financial Aid Application Timeline
• Scholarships & Grants
• Documents & Forms
• Tips & Links
• Tuition Refund Policies
• Consumer Information
• Disbursement & Repayment
• MD Emergency Student Aid Fund
• MD Travel Grant
• Child Care Subsidy
• Residency Interviewing Loans and Resources
• Short-Term University Loan
• Contact the Office of Financial Aid
• Profiles & Demographics
• Culinary Connections
• Students with Disabilities
• Arts & Humanities
• Diversity & Health Equity
• Dual Degrees
• More Possibilities
• Commencement
• Available PhD Programs
• Academic & Social Events
• MSTP Fellows
• Application Process
• Application Requirements
• MD | PhD Curriculum
• Undergrad Summer Program
• Contact the MD | PhD Program
• Bioinformatics
• Biological Chemistry
• Cancer Biology
• Cell & Developmental Biology
• Cellular & Molecular Biology

Genetics and Genomics

• Health Infrastructures & Learning Systems
• Microbiology & Immunology
• Molecular, Cellular & Developmental Biology
• Molecular & Cellular Pathology
• Molecular & Integrative Physiology
• Neuroscience
• Pharmacology
• Recruitment Events
• Interview Weekends
• Certificates & Dual Degrees
• Quantitative & Computational Biology Emphasis
• Training Grants
• Facilities & Resources
• Stipend & Benefits
• Professional Development
• Finding a Position
• Funding Your Postdoc
• Hiring Process
• Postdoc Preview
• International Postdocs
• ACGME Fellowships
• Non-Accredited Fellowships
• Postdoctoral Physician Scientist Training
• Salary & Benefits
• Prerequisites
• Visiting Residents & Fellows
• Application Overview & Requirements
• Tuition & Fees
• Timeline & Curriculum
• Information Sessions
• Program Details
• Undergrad Summer Research
• First Days Survival Guide
• Health Services
• Mental Health
• Health, Spirituality & Religion Program
• For Partners & Families
• Things to Do in Ann Arbor
• Getting Around
• Graduate Medical Education
• Office of Continuing Medical Education
• Office of Faculty Affairs & Faculty Development
• Office of Graduate & Postdoctoral Studies
• Physician Scientist Education & Training
• Office of Medical Student Education
• Points of Blue

Furthering our understanding of biology and human disease

Program Overview

The Department of Human Genetics at the University of Michigan was founded by Dr. James V. Neel in 1956 and was the first human genetics department in the United States. The initial focus of the department was human heredity, and this view has grown in breadth and depth through the genomic and post-genomic eras.

Our faculty include AAAS, National Academy and Institute of Medicine Fellows, Howard Hughes Investigators, and winners of University and Medical School teaching awards. Interactions among students and faculty ensure a comprehensive foundation in the many aspects of genetics, from genome function, to population diversity and the molecular mechanisms of disease. Collaborations within the department, across the University, nation-wide and internationally emphasize the crucial role of genetics in addressing global problems in human biology and disease.

A central mission of the Genetics and Genomics Graduate Program is to train students to confront these problems scientifically through a rigorous but flexible foundation in coursework and research.

Apply through our PIBS application

Graduate students have the opportunity to carry out interdisciplinary genetics research in diverse areas.

Examples of current research topics include:

• Cancer genetics
• Developmental genetics
• DNA recombination and repair
• Epigenetics
• Evolutionary and population genetics
• Genome structure, function, and regulation
• Genetic mapping of complex traits and diseases
• Medical genetics
• Molecular basis of Mendelian Disorders
• Neurogenetics
• Statistical genetics and genetic epidemiology

The multidisciplinary nature of this research is demonstrated by strong faculty involvement in the Genetics Training Program and Genome Science Training Grants, which are both supported by the NIH for 40 and 25 years, respectively. The Genetics Training Program is directed from the Department of Human Genetics, with faculty and student participation from five other PhD programs. The Genome Science Training Grant is co led by HG, with faculty and student participation from eight other PhD programs across the University of Michigan campus.

Genetics and Genomics students and faculty also participate in training programs in Bioinformatics; Cancer Biology; Genome Sciences; Organogenesis; Reproductive Biology; and Hearing, Balance, and Chemical Senses.

The core training in Genetics and Genomics consists of courses in molecular genetics, the genetic basis of human disease, and quantitative and statistical genetics. Additional courses are selected from within the Department of Human Genetics and throughout the University to strengthen one or more core areas. Coursework is designed to meet the individual training goals of students in the Program.

In addition to the core courses, students participate in the weekly student seminars, in which they learn to analyze and present research literature before the greater genetics community, including faculty and students. In the second year, students take Current Topics, a small class that focuses on current methods in genetic research through discussions of selected primary scientific literature, with student-led presentations.

The interactive and interdisciplinary nature of Genetics and Genomics is also highlighted by Departmental and training program seminars on cutting-edge topics presented by high-profile outside speakers, some of whom are selected by the students.

Preliminary Examination

Students take a preliminary examination during the Summer after their first year. The exam is a written and oral defense of the student’s proposed thesis research. Students advance to candidacy once they have passed the preliminary examination, completed certain course requirements, and received the approval of their thesis research mentor.

Teaching Requirement

While teaching is not a Program requirement, most Genetics and Genomics students spend at least one term as a teaching assistant, generally in their second or third year. Additional teaching opportunities are available through several outreach programs.

Expected Length of Program

After completion of required coursework, the doctoral dissertation is generally completed within 5 years of graduate study; however, this varies among students.

The Department of Human Genetics includes more than 21 Genetics and Genomics PhD students, as well as 27 primary faculty and 16 joint faculty whose primary appointments represent six additional departments. Up to eight students join our program each year and the Department is in an active growth phase with faculty added over the last few years and more recruitment planned.

Our students have received national fellowships and awards for their research, have served on national committees including in the American Society of Human Genetics, and have been recognized with the University of Michigan Distinguished Dissertation Award , the highest honor the University confers to recognize graduate student accomplishments.

Students get to know faculty and their research through numerous events throughout the year, including the Department retreat, Genetics and Genomics Retreat, the James V. Neel Lectureship, and the Thomas D. Gelehrter Lectureship. The Department of Human Genetics sponsors a seminar series of external speakers, short courses with several speakers on a related theme, and a weekly seminar given by trainees in the Department. There are also a variety of informal special interest groups that offer opportunities for students to present and get advice on their research findings.

Over 180 Genetics and Genomics PhD graduates have gone on to successful careers in academic research and teaching, biotechnology, and scientific consulting, among other professions.

Learn more about the Department of Genetics and Genomics.

We transform lives through bold discovery, compassionate care and innovative education.

• Diversity, Equity & Inclusion
• Find a Doctor
• Conditions & Treatments
• Patient & Visitor Guide
• Patient Portal
• Clinical Trials
• Research Labs
• Research Centers
• Cores and Resources
• Programs & Admissions
• Our Community
• Departments, Centers & Offices
• About the Medical School

Global Footer Secondary Navigation

Program Requirements

The interdisciplinary Doctor of Philosophy degree program in Healthcare Genetics, provided through the School of Nursing, offers individuals from multiple health-related disciplines the opportunity to achieve a terminal degree in Healthcare Genetics. The curriculum builds partnerships with more than six disciplines focusing on genetics, health policy and ethics, theory development and quantitative and qualitative research methods. Three specialty research tracks promote advanced study in Translational Genetics [Bench Research], Applied Population Genetics as an Interventionist, or Genetics in Ethics/Health Policy.

The PhD program in Healthcare Genetics prepares interdisciplinary scientists to extend the knowledge base relevant to healthcare genomics, translate research to advance the application of genomics in healthcare and collaborate in interdisciplinary research and practice.

Objectives of the program are as follows:

• Collaborate with other disciplines to generate knowledge and develop theories that focus on the genetic aspects of actual and potential health problems of diverse individuals, families, groups and communities while addressing health disparities.
• Formulate health promotion, disease prevention, and treatment strategies that translate and integrate genomic knowledge from a variety of disciplines.
• Demonstrate leadership that facilitates interdisciplinary development and application of ethical guidelines and health policy in genetics.
• Disseminate research findings to expand knowledge of genomics into models of practice.

Coursework includes a variety of on-line, Webenhanced and traditional classroom settings. Core courses are available on the Clemson University campus, as well as a variety of other institutions.

Admission Requirements

Students applying for the Healthcare Genetics program will have at least a bachelor’s degree in a related health science discipline from an accredited institution. Other requirements include the following:

• Competitive GRE scores (most successful applicants will have at least a 153 on the verbal section, a 144 on the quantitative section and a 4.0 for the writing section)
• Master’s (MS/MA) thesis or publications. (BS applicants entering without a data-based research experience will be required to complete satisfactorily a research project utilizing the six hours of cognate electives prior to beginning the core courses in the doctoral program.)
• Submission of a curriculum vita
• Written statement of career goals
• Graduate School application with three letters of recommendation from professionals that address research and scholarly potential
• Interviews with two faculty members (may be conducted in person, Polycom, or telephone depending on individual circumstances)
• Cumulative grade-point average of 3.4 or higher in the undergraduate (and/or graduate programs if applicable)

The curriculum is composed of 12 core courses and three cognate specialties/tracks. The core curriculum provides 34 hours of coursework in the areas of genetics, health policy and ethics, theory development and quantitative and qualitative research methods. In the specialty cognates, students pursue advanced study in Basic Genetics [Bench Research], Applied Population Genetics as an Interventionist, or Genetics in Ethics/Health Policy. Seminars and electives bring the cognate hours to 18. With 18 hours of dissertation (requirements met as manuscripts submitted for preparation), the total credit hours required is 70. This can be accomplished full-time over a four-year period, including two summers of study.

Comprehensive exams and 18 hours of dissertation research are required (to be developed as three manuscripts for publication).

The coordinator of the PhD program in Healthcare Genetics, in concert with individual faculty advisors, will work with each student to determine the requirements for their program of study. The plan of study for a student entering with a bachelor’s degree will be developed that reflects prior coursework, required prerequisites and data-based research experiences. Students without previous biochemistry courses will be required to take BCHM 6320    or its equivalent.

Boston University Academics

Boston University

• Campus Life
• Schools & Colleges
• Degree Programs
• Search Academics

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 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.

Related Bulletin Pages

• Graduate Medical Sciences Courses
• Abbreviations and Symbols

Beyond the Bulletin

• Graduate Program in Genetics and Genomics
• Program in Biomedical Sciences
• The Vesalius Certificate
• Anatomy & Neurobiology
• Behavioral Neuroscience
• Biochemistry
• MD/PhD in Bioinformatics
• Biomedical Forensic Sciences
• Biomedical Research Technologies
• Biomedical Sciences (PiBS)
• Clinical Research
• Forensic Anthropology
• Genetic Counseling
• Genetics & Genomics
• Health Care Emergency Management
• Health Professions Education
• Medical Anthropology & Cross-Cultural Practice
• Medical Sciences
• Mental Health Counseling & Behavioral Medicine Program
• Microbiology
• Molecular & Translational Medicine
• Neuroscience
• Nutrition & Metabolism
• Oral Biology
• Oral Health Sciences
• Pathology & Laboratory Medicine
• Pharmacology & Experimental Therapeutics
• Physician Assistant
• Physiology or Biophysics
• Departments
• BU Medical Campus Library
• Graduate Medical Sciences Student Organization (GMSSO)

Terms of Use

Note that this information may change at any time. Read the full terms of use .

related websites

• Graduate Medical Sciences

Accreditation

Boston University is accredited by the New England Commission of Higher Education (NECHE).

• © Copyright
• Mobile Version

Ph.D. in Public Health Genetics

The doctoral program in Public Health Genetics offers interdisciplinary training for careers in academic institutions, health care delivery systems, public health departments, government agencies, and the private sector. The interdisciplinary nature of the program prepares graduates to address scientific and policy questions from multiple perspectives. The PhD program involves fundamental areas of study in human genetics and public health along with core knowledge areas of Genomics in Public Health and Implications of Genetics for Society.

Core Knowledge Areas. The PHD program is organized around two Fundamental Areas of Study: human genetics and public health; and two Core Knowledge Areas: genomics in public health and implications of genetics for society.

Interdisciplinary Curriculum. PhD curriculum involves coursework in a range of subjects, including genetics, epidemiology, biostatistics, law and bioethics and humanities coursework. Students take a Preliminary Exam after the first two years of coursework; a general exam, also known as proposal defense, typically in years three or four; and a final exam, or dissertation defense, typically in year five or six.

Faculty. Work with our core, interdisciplinary, and clinical faculty who are recognized as national and international experts in the areas of epidemiology, food systems, health policy, program planning and evaluation, dietetics, and public health genetics.

Top-ranked School of Public Health. The program’s location within an accredited School of Public Health lends a systems perspective to our curriculum and teaching philosophy and supports strong linkages with state and local public health agencies and programs.

• PhD Core Knowledge Areas
• Timeline and Deadlines
• PhD Application and Materials

PhD Studies in Life and Biomedical Sciences

• Prospective Students
• Current Students
• Quick Links
• Research Clusters
• Biotechnology Systems and Synthetic Biology
• Cancer Biology
• Cell and Molecular Biology
• Chemical Biology and Drug Discovery
• Developmental Systems and Stem Cell Biology

Genetics and Genomics

• Immunology and Microbial Sciences
• Reproductive Science
• Structural Biology and Biophysics

Genetics, the science of inheritance and variation among living organisms, can be traced back to the seminal work of Gregor Mendel, published in 1866. Yet today genetics is one of the most fast-moving fields of biomedical research. Technological progress driven by the relatively new science of genomics, the study of the genomes of organisms, has led to rapid advances over the past few years. We now have the complete DNA sequence of many genomes and are able to decipher the mechanisms that regulate gene expression, configure chromatin architecture, recruit transcription factors and activate or silence individual loci or gene networks. Moreover, we can investigate the cross-talk between the genome and the epigenome, the modifications that alter gene expression but do not change the underlying DNA sequence. These dynamic processes are critical for normal development and differentiated function of distinct cell types in an organism and their failure results in a wide spectrum of human diseases.

Northwestern University is home to a vibrant and interactive group of scientists carrying out world-class, state-of-the-art research into fundamental mechanisms of genetics, genomics and epigenomics. The Genetics and Genomics cluster enhances and builds advanced training for our graduate students in these subject areas. This is an inclusive training opportunity that is available to all trainees on the several university campuses, irrespective of their primary field of study, or their departmental or geographical affiliations.

Training opportunities include:

1.  State of the art workshops.  Workshops will focus on technology or computational biology relevant to genetics and genomics Recent workshops include practical classes on bioinformatic pipelines, and programming skills.

2.  Genetics and Genomics seminars.  High profile scientists will be chosen and invited by the trainees.  Other relevant seminar series and journal clubs are ongoing.

3.  Annual Symposium.  This event is organized jointly by the cluster leadership and the trainees. It brings eminent keynote speakers to the university and includes talks from Northwestern faculty and students. The symposium provides an opportunity for the students to showcase their work and network in the Northwestern Genetics and Genomics community.

Cluster Director

• Christine DiDonato, PhD Professor, Pediatrics, Director, Human Molecular Genetics Program, SMCRI

Training Faculty  

1. Chromatin and Epigenetics.

• Jason Brickner*, PhD (IBiS) Spatial organization of the nucleus and gene expression
• Debabrata Chakravarti*, PhD (DGP) Hormone signaling and chromatin modifications
• Ramana Davuluri*, PhD (DGP) Translational bioinformatics and cancer genomics
• Kyle Eagen*, PhD (DGP) Structural and biochemical basis of chromatin folding and chromosome segregation
• Daniel Foltz*, PhD (DGP) Centromeric chromatin assembly and chromosome segregation
• Lifang Hou*, MD, PhD (DGP) Environmental, genetic and epigenetic risk factors for disease
• Steve Kosak*, PhD (DGP) Nuclear Form and Function during Cellular Differentiation and Disease
• John Marko*, PhD (IBiS) Protein-DNA interactions, and chromosome structure and dynamics
• Christopher Payne*, PhD (DGP) Epigenetics of Stem Cells and the Stem Cell Niche
• Ali Shilatifard*, PhD (DGP) Molecular machinery for histone modifications
• Sadie Wignall, PhD (IBiS)  Chromosome dynamics during oocyte meiosis
• Jindan Yu*, PhD (DGP) Genetic and epigenetic pathways to prostate cancer
• Wei Zhang*, PhD (DGP) Genetics and epigenetics of complex traits

2. Regulation of Gene Expression and Transcription Factors.

• Ravi Allada*, MD (IBiS) Molecular Genetics of Sleep and Circadian Rhythms
• Erik Andersen*, PhD (IBiS) Gene identification and disease susceptibility
• Grant Barish*, MD (DGP) Transcriptional regulators of inflammation and metabolism
• Joseph Bass*, MD, PhD (DGP) Circadian and metabolic gene networks in the development of diabetes and obesity
• John Crispino*, PhD (DGP) Transcriptional regulation of normal and malignant blood cell development
• Marco Gallio*, PhD (IBiS) The processing of temperature stimuli in the brain
• Jamie Garcia-Anoveros*, PhD (DGP)  Sensory and Developmental Neurobiology
• Geoff Kansas*, PhD (DGP) Transcriptional control of Fut7 in hematopoeitic cells
• Carole LaBonne*, PhD (IBiS) Formation, migration and differentiation of neural crest cells
• Vijay Sarthy*, PhD (DGP) Gene regulation, development and functional organization of the vertebrate retina
• Beatriz Sosa-Pineda*, PhD (DGP) Role of homeodomain-containing transcription factors in pancreas and liver organogenesis
• Alex Stegh*, MD, PhD (DGP) Defining and targeting the oncogenome of glioblastoma
• Eric Weiss*, PhD (IBiS) Signaling Pathways in the Control of Cell Architecture
• Jane Wu*, MD, PhD (DGP) Molecular mechanisms regulating gene expression and their involvement in the pathogenesis of age-related disease

3. Animal Models for Human Genetic Disease.

• Greg Beitel*, PhD (IBiS) Molecular Genetics of Organ Morphogenesis
• Thomas Bozza*, PhD (IBiS) Molecular Genetics and Physiology of Olfaction
• Richard Carthew*, PhD (IBiS) RNAi and Gene Regulation
• Gemma Carvill*, PhD (DGP) Genetic causes and pathogenic mechanisms that underlie epilepsy
• Jaehyuk Choi*, MD, PhD (DGP) Genetic basis of inherited and acquired immunological disorders and skin diseases
• John Crispino*, PhD (DGP) Mechanisms of normal and malignant blood cell growth
• Christine DiDonato*, PhD (DGP) Molecular basis of spinal muscular atrophy (SMA)
• Yuanyi Feng*, PhD (DGP) Cellular and molecular mechanisms of cerebral cortex development
• Alfred George, Jr.*, MD (DGP) Structure, function, pharmacology and molecular genetics of ion channels and channelopathies
• Richard Green*, MD (DGP) Genetics and molecular biology of cholestatic liver diseases and fatty liver disorders
• Robert Holmgren*, PhD (IBiS) Cell-fate specification during development
• Jennifer Kearney*, PhD (DGP) Genetic basis of epilepsy
• Dimitri Krainc*, MD, PhD (DGP) Mechanisms of neuronal dysfunction in neurodegenerative disorders
• Nikia Laurie*, PhD (DGP) Molecular mechanisms of retinoblastoma progression
• Yong-Chao Ma*, PhD (DGP) Regulation of motor neuron and dopaminergic neuron function in development and disease
• Puneet Opal*, MD, PhD (DGP) Cellular basis of neurodegeneration
• P. Hande Ozdinler*, PhD (DGP) Cortical component of motor neuron circuitry degeneration in ALS and related disorders
• Teepu Siddique*, MD (DGP) Causes, mechanisms, and modeling of neurodegenerative disorders
• Fred Turek*, PhD (IBiS) Sleep and Circadian Rhythms
• Xiaozhong (Alec) Wang*, PhD (IBiS) Genetic Analysis of Protocadherin Diversity in the Central Nervous System

4. Novel Genetic Technologies and Bioinformatics.

• Rosemary Braun*, PhD, MPH (IBiS) Analyzing high-throughput genomic data in the context of biological systems
• Elizabeth McNally*, MD, PhD (DGP) Genetic mechanisms responsible for inherited human disease
• Minoli Perera*, PharmD, PhD (DGP) Pharmacogenomics research in minority patient populations
• Ishwar Radhakrishnan*, PhD (IBiS) Structure, function, dynamics and informatics of macromolecular complexes
• Jonathan Silverberg*, MD, PhD, MPH (DGP) Dermatoepidemiology
• Matthew Schipma, PhD, Technical Director NGS Core Facility
• Justin Starren*, MD, PhD (DGP) Health care computing
• Ji-Ping Wang, PhD Bioinformatics and genomics
• Deborah Winter*, PhD (DGP) Computational immunology

5. Genetics of Complex disease.

• Grant Barish*, MD (DGP) BCL6 in gluconeogenesis, diet-induced obesity, and insulin resistance
• Han-Xiang Deng, MD, PhD
• M Geoffrey Hayes*, PhD (DGP) Evolutionary population genetics and genetic epidemiology
• Peter Kopp*, MD (DGP) Molecular genetics of thyroid and other endocrine disorders
• William Lowe*, MD (DGP) IGF-1 Gene Expression and Genetics of Diabetes
• Elizabeth McNally*, MD, PhD (DGP)  Genes and Modifiers for Heart and Muscle Disease
• Teepu Siddique*, MD (DGP) Molecular basis of neurodegeneration and amyotrophic lateral sclerosis
• Margrit Urbanek*, PhD (DGP) Susceptibility genes for complex diseases
• Lawrence Jennings, MD, PhD Novel molecular assays
• Suzanne O’Neill, MS, PhD, CGC Quantitative genetics
• Maureen Smith, MS, CGC Genome-wide Studies
• Cathy Wicklund, MS, CGC Genetic Counseling
• Laurie Zoloth, PhD Bioethics

Driskill Graduate Program (DGP) 303 East Chicago Avenue Morton 1-670 Chicago, IL 60611-3008 Phone: 312- 503-1889 Fax: 312-908-5253 Website URL: DGP Email: [email protected]

Interdisciplinary Biological Sciences (IBiS) 2205 Tech Drive Hogan 2-100 Evanston, IL 60208 Phone: 847-491-4301 Fax: 847-467-1380 Website URL: IBiS Email: [email protected]

• Degrees Offered

PhD in Public Health Genetics

Description.

Public Health Genetics is the application of advances in human genetics and genomic sciences to improve public health and prevent disease. The doctoral program in Public Health Genetics offers interdisciplinary training for careers in academic institutions, health care delivery systems, public health departments, government agencies, and the private sector. The interdisciplinary nature of the program prepares graduates to address scientific and policy questions from multiple perspectives. Training includes Fundamental Areas of Study (human genetics and public health) and two Core Knowledge Areas: Genomics in Public Health (genetic epidemiology, ecogenetics, and pharmacogenetics) and Implications of Genetics for Society (ethics & social science, law & policy, and health economics & outcomes research).

Likely Careers

Academia; research institutes and organizations; HMO’s; local, state, and national government.

The degree is also appropriate for individuals who possess an MD, RN, DVM, DDS, PhD, or JD degree that seek a career in public health practice or academia.

Application Deadline:   PhD admissions is expected to reopen for 2017-18

Competencies

Upon satisfactory completion of a PhD in Public Health Genetics, graduates will be able to:

• Demonstrate advanced knowledge in one of these core knowledge areas through coursework and dissertation project research;
• Demonstrate effective integration of the two core knowledge areas while conducting independent, interdisciplinary research in public health genetics;
• Demonstrate the ability to identify resources needed to stay current with the rapid advances in genomics, public health genetics, and clinical genetics, and their application in public health settings; and
• Communicate effectively about public health genetics to audiences from diverse backgrounds, including writing at a professional level and giving oral presentations.

Display competency in Genomics in Public Health (Core Knowledge Area A): 

• Apply knowledge of inheritance and genomic advances, including cellular and molecular mechanisms and technical developments, to understanding the etiology of a variety of rare and common, complex diseases and health conditions;
• Apply epidemiological and statistical approaches to the study of risk factors and diseases with a genetic component;
• Identify interactions among genes, environmental factors, and behaviors, and their roles in health and disease; and
• Discuss how genetic principles and genomic technologies apply to diagnosis, screening, and interventions for disease prevention and health promotion programs.

Display competency in Implications of Genetics for Society (Core Knowledge Area B): 

• Identify the impact of genomics on the public health activities of assessment, policy development and assurance;
• Apply methods to address ethical implications of the use of genetic information and technologies in public health;
• Discuss legal concepts and the role of the law in the development of policies relating to genetics and genomics; and identify legal implications of the application of genetics and genomic technologies in public health;
• Apply knowledge of key social science concepts in analysis of the political, social and cultural forces that influence the research and clinical application of genetics and genomic technology in public health; and
• Analyze the interaction and impact of market forces and public policy on the development and delivery of genetic services.

Our bacteria are more personal than we thought, Stanford Medicine-led study shows Learn More

Researchers dial in on genetic culprit of disease Learn More

Global Health Equity Scholarship recipient Dylan Maghini conducts microbiome research with her team in South Africa. Learn more about her research

Snyder Lab and collaborators publish the first spatial map of the intestine at the single cell level. Learn More

Can non-coding DNA change gene expression? Learn More

Genetics of Cancer Progression Mouse models of cancer enable an understanding of the metastatic process Learn More

Genetics of Development Mosaic Drosphila Imaginal Disc Learn more

Genetics department news.

Xin Zhou, Ph.D.  fellow researchers from Snyder Lab , and colleagues from multiple universities tracked the gut, mouth, nose and skin bacteria of 86 people for as long as six years to try to gauge what constitutes a healthy microbiome. 

“We found that when you get sick with something like a cold, you have this temporary change in the microbiome; it becomes very dysregulated,” Xin Zhou, Ph.D. said. “With diabetes, that signature is the same in many ways except that it is long-term rather than temporary.”  Learn More

Jesse Engreitz , PhD discusses genetics underlying coronary artery disease in an interview with SCOPE. A new study co-led by researchers at Stanford Medicine and others,  published Feb. 7 in  Nature , aims to address this challenge by proposing a solution that links disease-causing DNA variants to the deleterious processes they set in motion.  Learn More

December 2023

Global Health Equity Scholarship recipient Dylan Maghini conducts microbiome research with her team in South Africa.

Dylan's research focuses on the intersection between the gut microbiome and human health in a large cohort of nearly two thousand women in four countries (Burkina Faso, Ghana, Kenya, and South Africa). 

This collaborative project between Stanford University and the University of the Witwatersrand seeks to measure microbiome composition in low- and middle-income populations, identify how the microbiome is shaped by environmental and lifestyle factors, and measure associations between the microbiome and pressing human health concerns in these populations.  The project represents one of the largest population-representative gut microbiome studies in LMIC settings to date,  and is an excellent example of collaborative, equitable, and community-engaged research.  Learn more

August 2023

First Spatial Maps at the Single-Cell Level

Michael Angelo, PhD and Michael Snyder, PhD worked with Sanjay Jain, PhD,  John Hickey, PhD and collaborators to "uncover how cellular interactions reveal new ways cells can communicate with each other".

By combining cellular imaging techniques, machine learning and other methods of molecular analyses, the teams are creating a comprehensive resource for researchers to better understand all human tissue. The data collected will be publicly available through HuBMAP, enabling researchers to study tissue-specific characteristics, understand disease mechanisms, and develop automated annotation tools that identify and characterize cells.  Learn More

December 2022

Professor Polly Fordyce is the recipient of the 2023 Eli Lilly Award in Biological Chemistry.

She is being recognized for her significant contributions to biological chemistry, especially her revolutionary work on applying high throughput biochemical techniques and analyses to investigate molecular recognition. Her novel strategies have dissected quantitative relationships that govern biological function.  The work has contributed fundamental new insights into genetic variation, enzyme kinetics and thermodynamics.

October 2022

Serena Sanulli is named NIH Director's New Innovator Award Recipient.

Dr. Sanulli's lab studies genome organization across length and time scales with the long-term goal to understand how cells leverage the diverse biophysical properties of chromatin to regulate genome functions. She is the recipient of the Independent Postdoctoral Fellow Award from the program for Breakthrough Biomedical Research, the McCormick and Gabilan Faculty Fellowship, and she was recently named a Searle Scholar.

Two Key Types of Genes Identified The human genome includes millions of "enhancer" sequences that turn genes on and off—but it has been unclear which enhancers can regulate which genes. A new study led by researchers from the Engreitz Lab finds that two types of genes respond differently to enhancers, and that these responses are controlled by specific sequences in gene promoters. Link to article: https://rdcu.be/cNZxa

2022 Winners of the FNIH Lurie Prize in Biomedical Sciences Provide Powerful Contributions to Our Understanding of the Aging Process

The Foundation for the National Institutes of Health (FNIH) has named Anne Brunet, Ph.D., and Andrew Dillin, Ph.D., co-winners of the 2022 Lurie Prize in Biomedical Sciences

Transcriptional neighborhoods regulate transcript isoform lengths and expression levels

Authors:  Aaron N. Brooks1†‡, Amanda L. Hughes1†, Sandra Clauder-Münster1, Leslie A. Mitchell2, Jef D. Boeke2,3, Lars M. Steinmetz1,4,5 *

Affiliations:

1European Molecular Biology Laboratory (EMBL), Genome Biology Unit, 69117 Heidelberg, Germany

2Institute for Systems Genetics and Department of Biochemistry and Molecular Pharmacology, NYU Langone Health, New York, NY 10016, USA.

3Department of Biomedical Engineering, NYU Tandon School of Engineering, Brooklyn, NY 11201, USA

4Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA 5Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305, USA *Correspondence to:  [email protected] †Equal contribution

Abstract:  Sequence features of genes and their flanking regulatory regions are determinants of RNA transcript isoform expression and have been used as context-independent, plug-and-play modules in synthetic biology. However, genetic context, including the adjacent transcriptional environment, also influences transcript isoform expression levels and boundaries. We used synthetic yeast strains with stochastically repositioned genes to systematically disentangle sequence from contextual effects. Profiling 120 million full-length transcript molecules across 612 genomic perturbations, we observed sequence-independent alterations to gene expression levels and transcript isoform boundaries that were influenced by neighboring transcription. We identified features of transcriptional context that could predict these alterations and used these features to engineer a synthetic circuit where neighboring transcription controlled transcript length. This demonstrates how positional context can be leveraged in synthetic genome engineering.

February 2022

“90 Seconds with Lisa Kim”: Genome sequencing sets Guinness World Record

A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists sets the first Guinness World Record for the fastest DNA sequencing technique, producing results for one study participant in just over five hours. See the video on StanfordMed TODAY.

Genome-wide enhancer maps link risk variants to disease genes

Genome-wide association studies (GWAS) have identified thousands of noncoding loci that are associated with human diseases and complex traits, each of which could reveal insights into the mechanisms of disease 1 . Many of the underlying causal variants may affect enhancers 2 , 3 , but we lack accurate maps of enhancers and their target genes to interpret such variants. Read more...

Image credit: Zayna Sheikh

Fitbit detecting oncoming sickness 

Dr. Michael Snyder discovered that among the millions of measurements they make every day, subtle variances in a Fitbit's data could be a predictor of an oncoming illness.

Read more...

Department of Genetics COVID-19 Research

Our scientists from the Department of Genetics have launched research projects as part of the global response to COVID-19. 

Stanford Medicine scientists hope to use data from wearable devices to predict illness, including COVID-19

Researchers from Stanford Medicine and their collaborators aim to predict the onset of viral infection through data provided by wearable technology. What they need now are participants.

Full Story...

September 2018

We are bombarded by thousands of diverse species and chemicals

We are all exposed to a vast and dynamic cloud of microbes, chemicals and particulates that, if visible, might make us look something like Pig-Pen from Peanuts.

Researchers can forecast risk of deadly vascular condition from genome sequence

A new approach that distills deluges of genetic data and patient health records has identified a set of telltale patterns that can predict a person’s risk for a common, and often fatal, cardiovascular disease, according to a new study from the Stanford University School of Medicine .

Diabetic-level glucose spikes seen in healthy people

A study out of Stanford in which blood sugar levels were continuously monitored reveals that even people who think they’re “healthy” should pay attention to what they eat.

New center sets out to stop disease before it starts

At the Precision Health and Integrated Diagnostics Center, scientists turn the norms of disease research on their head, searching not for treatments but for ways to prevent disease entirely.

It’s not often that world-class scientists band together to investigate disease with no intention of curing it. Yet upward of 55 scientists at Stanford’s Precision Health and Integrated Diagnostics Center are doing just that in a push to get researchers and physicians off their heels and onto their toes in the battle against disease..

CRISPR used to genetically edit coral

In a proof-of-principle study, Stanford scientists and their colleagues used the CRISPR-Cas9 gene-editing system to modify genes in coral, suggesting that the tool could one day aid conservation efforts.

Coral reefs on the precipice of collapse may get a conservation boost from the gene-editing tool known as CRISPR, according to researchers at the Stanford University School of Medicine and their collaborators.

January 2018

Weight flux alters molecular profile

Stanford scientists have found links between changes in a person’s weight and shifts in their microbiome, immune system and cardiovascular system.

A paper describing the work was published online Jan. 17 in Cell Systems . The lead authors are Stanford postdoctoral scholars Wenyu Zhou, PhD, and Hannes Röst, PhD ; staff scientist Kévin Contrepois, PhD; and former postdoctoral scholar Brian Piening, PhD . Senior authorship is shared by Michael Snyder , PhD, professor of genetics at Stanford; Tracey McLaughlin , MD, professor of medicine at Stanford; and George Weinstock , PhD, professor and director of microbial genomics at the Jackson Laboratory , an independent, nonprofit biomedical research institution.

October 2017

Study uncovers mutation that supercharges tumor-suppressor

Cancer researchers have long hailed p53, a tumor-suppressor protein, for its ability to keep unruly cells from forming tumors. But for such a highly studied protein, p53 has hidden its tactics well.

Now, researchers at the  Stanford University School of Medicine  have tapped into what makes p53 tick, delineating a clear pathway that shows how the protein mediates anti-tumor activity in pancreatic cancer. The team’s research also revealed something unexpected: A particular mutation in the p53 gene amplified the protein’s tumor-fighting capabilities, creating a “super tumor suppressor.”

Full story...

Tissue-specific gene expression uncovered, linked to disease

Understanding how a person’s DNA sequence affects gene expression in various tissues reveals the molecular mechanisms of disease. Stanford scientists involved in the National Institutes Health’s GTEx project have published some of their insights.

John Pringle and Anne Villeneuve elected to National Academy of Sciences  

Three Stanford researchers are among the 84 newly elected members of the National Academy of Sciences .

The new members from Stanford are Dominique Bergmann , PhD, professor of biology; John Pringle , PhD, professor of genetics; and Anne Villeneuve , PhD, professor of developmental biology and of genetics. Full story..

February 2017

$10.5 million awarded to researchers to work on dna encyclopedia.

Stanford’s William Greenleaf, Michael Bassik, Michael Snyder, Jonathan Pritchard and Michael Cherry have won grants to work on the federally funded Encyclopedia of DNA Elements. Full story..

January 2017

Wearable sensors can tell when you are getting sick

New research from Stanford shows that fitness monitors and other wearable biosensors can tell when an individual’s heart rate, skin temperature and other measures are abnormal, suggesting possible illness. Full story..

Interested in applying to the Ph.D. Program?

The Ph.D. program in the Department of Genetics 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.

Learn more about the Genetics Ph.D. Program here .

Department Chair

" Genetics and genomics are undergoing an unparalleled revolution: our mission is to continue to lead this revolution for a better understanding of biology and human health. "

Michael Snyder, Ph.D. Stanford W. Ascherman Professor and Chair, Department of Genetics Director, Center for Genomics and Personalized Medicine

Show Your Support

A gift to the Stanford Genetics department supports our research and education. Donations are vital to the achievements of our work and are greatly appreciated.  Checks payable to Stanford University.  Please note on the check WAZC/Genetics and specifics of where the funds should be directed. Thank you.

Kindly send by mail to:

Development Services PO Box 20466 Stanford, CA 94309

CALL US:  650.725.2504

CONTACT US:  [email protected]

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 of nearly 200 students, faculty, postdoctoral fellows, and research staff.

The mission of the Department includes education and teaching as well as research; graduates from our program pursue careers in many different venues including research in academic or industrial settings, health care, health policy, and education. We are especially committed to increasing diversity within the program, and to the training of individuals from traditionally underrepresented minority groups to apply.

#1 Graduate School in Genetics/Genomics/Bioinformatics by  U.S. News

Announcements

Luigi luca cavalli-sforza ( 1922 - 2018), len herzenberg (1931-2013), david r. cox-(1946-2013), the stanford genetics and genomics certificate.

Open to the public: Take online courses in the Stanford Genetics and Genomics Certificate to gain fundamental knowledge and a 'big picture' understanding of the cutting-edge fields of genetics, genomics and personalized medicine.

• Foundations in Genetics and Genomics Certificate
• Advanced Genetics and Genomics Certificate

Genetics, Biomedical Computing and Genomics Monthly Meeting – “Translational Science at CFCCC-Opportunities for Collaboration and Clinical Trials”, Farshid Dayyani, MD, PhD

Tuesday 05/07/2024

10:00 to 11:00 a.m. (PT)

Dr. Dayyani is a Professor of Clinical Medicine in the Division of Hematology/Oncology at University of California Irvine and board certified in Medical Oncology. He is also the Associate Director for Translational Science and the Medical Director of the Clinical Trials Unit at the Chao Family Comprehensive Cancer Center at UC Irvine.

Dr. Dayyani performs clinical and translational research in gastrointestinal and hepatobiliary carcinomas. He manages a wide portfolio of investigator initiated, NCI funded and industry sponsored clinical trials to develop novel treatment options and establish new biomarkers. He obtained his MD/PhD from LMU Munich, Germany, followed by a research fellowship and residency in internal medicine at Harvard Medical School, Boston. He then completed a combined clinical and research fellowship in medical oncology at the UT MD Anderson Cancer Center, Houston, TX. Dr. Dayyani also has industry experience as Global Clinical Lead for Oncology at Roche Diagnostics, Int. in Rotkreuz, Switzerland, prior to joining UC Irvine.

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

• View all journals
• Explore content
• About the journal
• Publish with us
• Sign up for alerts

Perspectives in 2024

Advancing genomics to improve health equity

This Perspective discusses how addressing disparities in genomics can drive improvements in health equity more broadly.

• Ebony B. Madden
• Lucia A. Hindorff
• Eric D. Green

Quick links

• Explore articles by subject
• Guide to authors
• Editorial policies

EDITORIAL article

Editorial: the genetics and epigenetics of mental health.

• 1 Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil
• 2 Faculdades Pequeno Príncipe, Curitiba, Brazil
• 3 Department of Genetics, Federal University of Parana, Post-graduation Program in Genetics, Curitiba, Brazil
• 4 Translational Research in Respiratory Medicine, Hospital Universitari Arnau de Vilanova-Santa Maria, Biomedical Research Institute of Lleida (IRBLleida), Lleida, Spain
• 5 CIBER of Respiratory Diseases (CIBERES), Institute of Health Carlos III, Madrid, Spain

Editorial on the Research Topic The genetics and epigenetics of mental health

Mental health conditions cover a broad spectrum of disturbances, including neurological and substance use disorders, suicide risk, and associated psychosocial, cognitive, and intellectual disabilities (WHO, 2022). Despite a substantial amount of evidence, the interaction of genetic variants, epigenetic mechanisms, and environmental risk factors involved in mental health is poorly understood. Through distinct perspectives and different experimental approaches, the genetics and epigenetics of mental health were addressed in seven relevant articles included in this Research Topic, briefly summarized below.

Stress has severe consequences on the epigenome, but the timing of its occurrence, as well as the intensity and number of events, are critical for the severity of mental health symptoms. In particular, Serpeloni et al. demonstrated that stress generated in the form of intimate partner violence (IPV) during and/or after pregnancy impacts the offspring’s epigenome, shaping its resilience. They observed that individuals exposed to maternal IPV after birth presented psychiatric issues similar to their mothers, with different outcomes if the exposure to maternal IPV occurred both prenatally and postnatally. Prenatal IPV was associated with differential methylation in CpG sites in the genes encoding the glucocorticoid receptor ( NR3C1 ) and its repressor FKBP51 ( FKBP5 ), associated with the ability to terminate hormonal stress responses. Also considering early-life experiences and data from 2008 to 2016 of the Health and Retirement Study, Shin et al. concluded that early life experiences and relationships have a significant influence, attenuating or exacerbating the risk of suffering from mental health problems among individuals with a higher polygenic risk score predisposing to autism.

Environmental and developmental factors are also strongly linked to obsessive-compulsive disorder (OCD). They may explain the apparent discrepancy between the relatively high heritability scores and the inconsistent results found in genetic association studies, owing to their impact on gene expression and regulation. Based on this, Deng et al. stratified OCD patients by the age of disease onset. The findings revealed associations between the early onset and variants of genes whose products play a role in neural development, corroborating the age-associated genetic heterogeneity of OCD.

Further exploring environmental and genetic etiological clues, Li et al. used genome-wide association study (GWAS) data to calculate polygenic risk scores for salivary and tongue dorsum microbiomes associated with anxiety and depression. Additionally, causal relationships between the oral microbiome, anxiety, and depression were detected through Mendelian randomization, unraveling potential pathogenic mechanisms and interventional targets. Constructing a similar line of evidence, Becerra et al. found associations between the epigenetic regulation of inflammatory processes, the composition of gut microbiome, and modified Rosenberg self-esteem scores in samples from the Native Hawaiian and other Pacific Islander (NHPI) populations, which present a high prevalence and mortality from chronic and immunometabolic diseases, as well as mental health problems. This warrants further investigation into the relationship of microbiota to brain activity and mental health.

There is a lot of debate regarding suicidal behavior and its relationship with psychiatric disorders, but the extent to which they share the same genetic architecture is unknown. This Research Topic was investigated by Kootbodien et al. through the use of genomic structural equation modeling and Mendelian randomization with a large genomic dataset. The authors observed a strong genetic correlation between suicidal ideation, attempts, and self-harm, as well as a moderate to strong genetic correlation between suicidal behavioral traits and a range of psychiatric disorders, most notably major depressive disorder, involving pathways related to developmental biology, signal transduction, and RNA degradation. In conclusion, the study provided evidence of a shared etiology between suicidal behavior and psychiatric disorders, with overlapping pathophysiological pathways.

Malekpour et al. , in their investigation of psychogenic non-epileptic seizures (PNES), also uncovered shared pathways with psychiatric conditions. PNES, the most prevalent non-epileptic disorder among patients referring to epilepsy centers, carries a mortality rate akin to drug-resistant epilepsy. Employing a systems biology approach, the authors pinpointed several key components influencing the disease pathogenesis network. These include brain-derived neurotrophic factor (BDNF), cortisol, norepinephrine, proopiomelanocortin (POMC), neuropeptide Y (NPY), the growth hormone receptor signaling pathway, phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) signaling, and the neurotrophin signaling pathway.

In general, these studies have some limitations: small sample sizes, leading to low statistical power in some cases, environmental confounding factors (such as diet and physical activity), which were not considered in the microbiome studies, incomplete phenotype descriptions, and partial coverages of human genetic diversity. Childhood adversities and adult comorbidities are among the variables that were not controlled for as possible causes of the investigated psychiatric and neurological disorders, and some results still claim for functional studies to be validated. Thus, the findings brought more elaborated questions, each of which shed some light on knowledge gaps that remain very difficult to fill. How do early-life epigenetic processes regulate our mental health resilience and disease resistance? What is the role of the microbiome in this process and how do genetic variants influence its composition? How does the impact of all these elements shape the resistance of human populations to psychiatric and neurological diseases and, most importantly, translate into public health measures in the future? We hope to engage more researchers in the pursuit of these answers.

Author contributions

GCK: Conceptualization, Data curation, Writing–original draft, Writing–review and editing. ABWB: Writing–original draft, Writing–review and editing. ADST: Conceptualization, Data curation, Writing–original draft, Writing–review and editing.

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This research was funded by Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and Empresa Brasileira de Serviços Hospitalares (Ebserh) grant numbers 423317/2021-0 and 313741/2021-2 (8520137521584230), Research for the United Health SUS System (PPSUS-MS), CNPq, Fundação Araucária and SESA-PR, Protocol N°: SUS2020131000106. ABWB receives CNPq research productivity scholarships (protocols 313741/2021). ADST receives financial support from Instituto de Salud Carlos III (Miguel Servet, 2023: CP23/00095), co-funded by Fondo Social Europeo Plus (FSE+).

Conflict of interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Publisher’s note

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.

Keywords: methylation, GWAS-genome-wide association study, microbiome & dysbiosis, poligenic risk score, neurological conditions, epigenome, genome

Citation: Kretzschmar GC, Boldt ABW and Targa ADS (2024) Editorial: The genetics and epigenetics of mental health. Front. Genet. 15:1402495. doi: 10.3389/fgene.2024.1402495

Received: 17 March 2024; Accepted: 26 March 2024; Published: 09 April 2024.

Edited and reviewed by:

Copyright © 2024 Kretzschmar, Boldt and Targa. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

*Correspondence: Gabriela Canalli Kretzschmar, [email protected] ; Angelica Beate Winter Boldt, [email protected] ; Adriano D. S. Targa, [email protected]

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.