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Fields of Study and Research

Many general areas of research are available in the Human Genetics program:

  • Regulation of gene expression
  • Molecular organization of human chromosomes
  • Molecular regulation of X chromosome activity, including dosage compensation
  • Molecular basis and pathogenesis of inborn errors
  • Molecular mechanisms of evolutionary divergence
  • Regulation of cellular differentiation
  • Public health aspects of genetics
  • Model organisms as tools for understanding human genetics
  • Human chromosome mapping
  • Genetics of complex traits and disease susceptibility
  • Genetics of the immune response
  • Environment-gene interactions
  • Mechanisms of mutagenesis
  • Prevention and treatment of genetic disease
  • Molecular analysis of chromosomal aberrations
  • Molecular basis of oncogenesis
  • Retroviral biology and role in disease
  • Molecular dissection of early mammalian development
  • Gene therapy
  • Informatics


Approximately 10 - 12 new students are admitted to the program each year. Our students interact with trainees in several other programs at Hopkins including postdoctoral fellows in Human Genetics, as well as predoctoral students in many of the other graduate programs on the School of Medicine campus including Biochemistry, Cellular and Molecular Biology (BCMB); Neuroscience; Immunology; and Cellular and Molecular Medicine (CMM).


Required Courses

Below are listed the courses required of all students in the program. These includes a human biology core that has been adapted from the basic medical school curriculum. The first course that incoming students will take is Genetics & Medicine: History of Ideas. In this seminar course, students revisit articles that have been the cornerstome of the evolution in the field and discuss the historical and scientific context in which such discoveries were made.

Further on, our students are required to take courses that are part of the core curriculum for BCMB and other programs on campus, where they will acquire an extensive knowledge of molecular biology, genetics of model systems, and human genetics. The introductory course in Human Genetics and three advanced genetics seminars are required, as well as basic graduate courses in Molecular Biology, Fundamentals of Genetics, Biochemistry and Cell Biology. We believe that the time spent in formal course work, although significant in the first year and a half of the program, provides our students with an excellent, broad-based foundation for careers in biomedical research.

Human Genetics Courses - Year 1

courses for year 1 of the predoctoral program

Human Genetics Courses - Year 2

courses required for year 2

Listed in blue boxes are those courses that are shared with other Graduate Programs in the School of Medicine. Those courses listed in a red box are specific for Human Genetics Students.

Elective Courses

Electives available include existing courses in human biology as well as those in genetics and molecular biology. In addition, there are many other courses available in the Schools of Medicine, School of Public Health and at Homewood which may be appropriate for individualized programs. These include courses in Bioinformatics, Advanced Biostatistics and many other subject-related topics.

Research and Training

Research training begins soon after the student enters the program. The rotation electives are selected by the student according to his/her interests. A series of informal luncheon meetings with the faculty as well as the Human Genetics Student/Faculty retreat, held in September each year, provides the student with an opportunity to become acquainted with the research activities of each of the preceptors.

Students are required to spend three months in each of at least two laboratories and often three or four before choosing a preceptor for the thesis project. These research rotations provide an opportunity to experience several laboratories and areas of research in human genetics before selecting a thesis lab.

At the end of each year, the first and second year students present a brief summary of their research rotation experience to the other students and the group of rotation preceptors. This serves to give the student an opportunity to develop experience in communicating their work to others, gives the other students an idea of the kind of work that is carried out in the preceptor’s laboratory. Each student receives immediate feedback on the presentation as a way to help develop verbal presentation skills.

Thesis Project Research

Students generally identify their thesis project preceptors by the end of the first year. Students choose among the group of preceptors in our program. Choices are based on their contact with the faculty from an early stage in their training during formal course work, at research conferences, student/faculty retreat and in the preliminary laboratory rotations. The Director and/or other members of Executive Committee meet with the students individually to discuss the choice of a thesis preceptor. The student and his/her preceptor design a thesis project based on the interests of the lab, discussions between themselves and with other scientific colleagues, readings in the scientific literature and preliminary experimental work. To assist with the project, the student selects a thesis committee comprised of three-four members of the Hopkins faculty at large, in addition to the preceptor. This committee meets with the student and preceptor at least once a year to provide advice and expertise. Ultimately, the student prepares a written thesis that must be certified as original and publishable by at least two members of the faculty. Finally, the student presents his/her thesis in a thesis seminar. A thesis examination committee made up of faculty members from inside and outside the program attends this seminar and, together with the readers, attests the quality of the thesis.

Writing, Speaking and Teaching

The ability to communicate results of research is essential for success as an investigator. Students receive advice and experience presenting their work in the Research Rotation talks, journal club and research conferences. Writing skills are sharpened by preparation of research reports while the studies are in progress. There is also a seminar on biomedical writing available to help develop critical writing skills.

During the third year each student serves as a teaching assistant in one of a number of graduate courses. As most of our trainees eventually will hold academic positions where they will be expected to teach, we view this experience as an important component of the training experience.

Supplementary Activities

  • IGM Seminars - This is a weekly, midday research conference which keep all of us abreast of the latest research developments in human genetics and molecular biology. Additionally, there are several seminar series held at the Hopkins Institutions (School of Hygiene, School of Medicine, Homewood, Carnegie Institution). Because of time constraints, students learn to be selective, but attend those seminars pertinent to genetics and their research interests throughout the course of the program.
  • Journal Club - Each week one student, postdoctoral fellow or faculty member takes a turn at presenting a research topic from the current literature for group discussion. Third year and higher students participate in this conference. In this way, students not only learn about recent research developments, but they also learn how to evaluate research reports. The papers considered cover a broad area of human genetics and include the latest developments from studies of model organisms including yeast, Drosophila and non-human mammals.
  • Bar Harbor Course - Our students attend the two week course “Short Course in Medical and Mammalian Genetics” held each summer at the Jackson Laboratory in Bar Harbor, Maine. The content includes basic principles and the latest developments in mammalian genetics with emphasis on human and mouse genetics. The faculty consists of members of The Jackson Laboratory, members of various departments at Hopkins and outstanding eukaryotic geneticists from other universities. Students attend this course at the end of their first year. This course not only contributes to knowledge of human genetics, but also fosters interactions with prospective preceptors and leading geneticists from around the world.
  • Clinic Conferences - Students who wish to learn more about variations in human phenotype may attend the post clinic conferences of the Genetics Clinic. These are held weekly as an activity of the Institute for Genetic Medicine. Other obligations usually prevent attendance during the first year of graduate training, but thereafter attendance is feasible.
  • Science & Pizza - The second Tuesday of each month, three students from third year and beyond will present their research in a short, 20-25 minutes presentation. The aim of these sessions is to promote student interaction and discussion of thesis projects in a student-guided atmosphere but with an active participation of Faculty.

Program Duration

Although there are individual differences, most students complete their course requirements and research projects within a five to six year period. The required annual thesis committee meetings help the student bring their thesis projects to successful and timely completion.


Student performance is in the program is evaluated by (i) the research work accomplished during the laboratory rotations as judged by reports from the preceptors and by the research rotation presentations (ii) academic performance and (iii) the comprehensive exam. The Executive Committee meets at least yearly to formally evaluate each student’s academic progress and research potential.

Comprehensive Qualifying Exam

Completed in June of the second year, this consists of an oral examination before members of the Human Genetics Program. The subject matter of the exam focuses on human genetics, molecular biology and the students' research plans.

Thesis Dissertation

The students present their thesis in a public seminar once the thesis committee has established that the work done is of the quality and depth required to obtain a doctoral degree. The thesis must be certified as original and publishable by at least two members of the faculty. The dissertation material must be prepared for publication in reviewed journals if not already published or submitted. In fact, the thesis may consist of bound reprints or studies already published, along with a scholarly introduction and an appendix containing relevant supplementary data.

After Hopkins

There has been considerable interest in promoting activities of those who have been trained as human biologists through postdoctoral research training programs for physicians and combined M.D./Ph.D. training programs. Our training program has the complementary aim of providing biological training for those whose primary interest is research.

A good deal of the research in human genetics is carried out by non-physicians. Our students, armed with knowledge of genetics, human biology and molecular biology are especially qualified for this role. They are recruited for research positions in Departments of Human Genetics, Medicine, Pediatrics, and the Basic Science. As the demand for genetic services is increasing almost exponentially, some of our graduates may also combine research with the delivery of essential genetic services, i.e. genetic diagnosis and screening programs.

Our graduates also have opportunities in universities and undergraduate departments as teachers of human genetics -- teachers who have a firm basis in human biology as well as genetics. The lay public has insufficient knowledge of human biology and genetics to benefit from many advances in human genetics. Our graduates are able to contribute to the dissemination of this information to college students.

Of even greater consequence, our program makes our students aware of problems involving human disease. This knowledge influences the nature of the research problems they pursue. We expect that our students will be stimulated to attack genetic problems of medical relevance as well as those in developmental biology.


Support for the initial year of the program is derived from a training grant from the National Institutes of Health. Students admitted to the program are supported by a full tuition scholarship, health insurance and a stipend. For 2012-2013, the yearly stipend is $28,645. Renewal of scholarship and fellowship is assured throughout the training program as long as normal academic progress is maintained and funds are available. Students are encouraged to apply for one of the several national fellowships (e.g. National Science Foundation, Howard Hughes Medical Institutes). Applicants who are U.S. citizens or permanent residents are eligible for support derived from Federal Training grants. Support for non-U.S. citizens is available from other sources.


Single rooms and suites are available in the School of Medicine (Reed Hall) at costs from about $400/month. Many students prefer to live in housing available near the Homewood campus as there is convenient free transportation to the Medical Institutions. Monthly rates at University and local residences can be obtained from the Housing Office, Wolman Hall, Charles and 34th Streets, Baltimore, MD 21218. The cost of living in Baltimore is surprisingly reasonable. For more information, please visit the Student Guide.

Admission Requirements

The requirements for admission include a bachelor’s degree with undergraduate training in organic chemistry, general biology and genetics and significant laboratory research experience. A course in physiology is helpful.

Admission to our program is based on: (1) the quality of academic credentials (GPA with special emphasis on performance in physics, organic chemistry and genetics, results of the Graduate Record Examinations, with emphasis on quantitative and advanced tests) and (2) our judgment of research potential based on publications and letters from individuals who can evaluate research potential through prolonged contact with the students, either as a mentor during a research elective or as an employer. Interviews are scheduled only after receipt of all application material.

When and Where to Apply

December 31st is the deadline for the application form as well as receipt of all application materials. All applicants are strongly encouraged to use the electronic application. Application materials include scores from the Graduate Record Examination (GRE), if not previously submitted, in addition to 2-3 letters of recommendation and an official transcript. A fee is required. Applicants should specify the institutional code for Human Genetics, 5316, on the Educational Testing Services (ETS) score report form.

Requests for information should be sent to:

Sandy Muscelli, Program Administrator or
David Valle, Director, Predoctoral Training Program in Human Genetics

Johns Hopkins University School of Medicine
733 N Broadway, BRB 515
Baltimore, MD 21205

All of the application materials not submitted online, including letters of recommendation and transcripts, should be sent together in one package to the central admissions office, attention:

Anita Cunningham
Johns Hopkins University, School of Medicine
Office of Graduate Student Affairs
1830 E Monument Street, Suite 2-107
Baltimore, MD 21205

Our e-mail address is:

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