The Ph.D. program in Human Genetics offered by the Institute provides students with a solid foundation for a career in human genetics research and teaching.  The Training Program in Human Genetics admits students through one of the three interdepartmental programs:

For more information on how to apply see the following websites:

Predoctoral students in the Human Genetics Training Program are supported in part by two training grants funded by the National Institutes of Health: (1) the Vanderbilt Training Program on Genetic Variation and Human Phenotypes (T32 GM080178) and (2) the Training Program in Quantitative Ocular Genomics (T32 EY21453).

Both T32 training programs provide support for primary predoctoral research in the field of human genetics. Genetics is the study of variation in and transmission of hereditary material from generation to generation and how this information is translated into biological function. Genetics utilizes multiple techniques to understand the variation, transmission and function of hereditary material from the molecular level to the population level. Because of the pervasive impact of genetic variation on biological function, genetics has become a unifying theme for much research in the biological and biomedical sciences and can serve as a focus for the study of virtually all biological processes and systems. Genetics plays an ever increasing role in elucidation of the cellular and molecular mechanisms of human disease and birth defects, as well as in their prevention, diagnosis and therapy. In addition to the use of genetics to study biomedical questions posed by other fields, genetics encompasses an important set of questions as to how the information content of a set of relatively simple molecules can be translated into complex organisms, how variation at the molecular level can cause differences among individuals in terms of normal variation and disease processes, and how this variation within and among populations can be used to explain differences in disease prevalence.

In recent years, human genetics, as a subfield of genetics, has contributed significantly to our understanding of disease processes. This explosion in the growth of knowledge as an outcome of genetic analysis and the successfully completed Human Genome Project will increase over the foreseeable future. The goal of the Ph.D. Program in Human Genetics is to build on this explosion of knowledge by training students to explore the questions motivated by genetic research in general and particularly as they apply to human disease.

Our graduate students are well-rounded biologists conducting research in an amazing variety of topics interfacing with human genetics, largely focused on generating and/or analyzing state-of-the-art genetic and genomic (and other -omic) data, including data from the utterly unique BioVU resource. The curriculum will teach students within the program as well as students in other disciplines how to use the tools of genetics to answer a variety of important biological questions.

Ph.D. Program in Human Genetics
The curriculum will teach students within the program as well as students in other disciplines how to use the tools of genetics to answer a variety of important biological questions.

HGEN 8320 Research/Techniques in Human Genetics: For students prior to admission into candidacy for Ph.D. degree. Fall, Spring, Summer. Hours and credit by arrangement. Samuels and Staff.

HGEN 8330. Special Topics in Human Genetics. This course will provide students with an introduction to special topics in human genetics research, with emphasis on unanswered questions in the field. An introductory module will give students a basic understanding of human genetic principles. This will be followed by discussion of current special topics. Potential topics include: What do we know about the human genome and what do we have to learn? Is there a gene for everything? Is personalized medicine feasible? SPRING. [3] Bush.

HGEN 8335. Genetics Interest Group. The class meets weekly and is a seminar course that involvesfour revolving formats: journal club presentations, clinical and ethics talks, directed discussion on current topics of interest in human genetics, and student research in progress presentations. For Human Genetics graduate students only. Fall and Spring [0]

MPB 8332 Regulation of Gene Transcription: This course covers DNA/protein interactions including recent findings on how interactions are established within the chromosomal environment and how they affect gene activity; hormonal and developmental aspects of gene control in the context of protein/DNA interactions.

HGEN88340 Human Genetics I: Designed to cover background and latest advances in human genetics.  Topics will include an overview of mutational mechanisms, cytogenetics (detection and description of chromosomal abnormalities), biochemical genetics (gene defects in biochemical pathways, inborn errors of metabolism), molecular genetics (gene structure, function, and expression). Topics are discussed with reference to specific human genetic diseases. FALL. [3]  Russell and Mortlock.

HGEN 8341 Human Genetics II: This course will cover the statistical, population, and analytical aspects of modern human genetics research.  Topics to be covered include human population genetics, disease gene discovery (study design, statistical and molecular techniques), quantitative genetics, linkage and association analyses, computational genetics, and evolutionary genetics. Clinical examples, subject ascertainment, and study design will also be emphasized.  Students must have a strong understanding of Mendelian genetics and basic biostatistics. Prerequisite: permission of instructor. SPRING [3] Crawford and Staff.

HGEN 8349 Genetics of Model Organisms:  Basic genetic principles across a broad range of organisms (yeast, c. elegans, Drosophila, Arabidopsis, mouse, zebrafish) that are used to investigate molecular and developmental pathways relevant to human disease.  This course will provide students with in-depth terminology and understanding of the advantages, applications and approaches specific to each organism.  Genomic and bioinformatics tools that facilitate genetic analysis in each species will be emphasized.  Specific examples of how each model organism has successfully contributed to defining a human disorder will be presented.  Course combines faculty lectures with discussion of original articles and hands-on computer time for demonstration of statistical packages. Prerequisites: One statistics course at the upper undergraduate level or higher, Fundamental Genetic Analysis (MPB 385) or permission of the Instructor is REQUIRED. SPRING [3] Southard-Smith and Staff.

HGEN 8350 Directed Study in Human Genetics:  Introduction to current research through readings of the genetics literature. Given on an individual basis by arrangement. May be taken more than once, but not for more than 4 hours credit with a single advisor, nor for more than 5 hours total. Prerequisite: consent of instructor and DGS. Approval through Graduate school. FALL, SPRING, SUMMER. Variable credit. Staff.

HGEN 8370 Tutorials in Human Genetics:  A weekly seminar critically evaluating current and past scientific literature from many areas of human genetic research.  The focus will be on study methods and analysis.  Each student is expected to read and critically analyze the original literature, and present at least one paper during the semester. FALL. Kearney and Morgan.

HGEN 8371 Tutorials in Statistical and Population Genetics: This course is a weekly seminar where students critically evaluate research publications specifically in the areas of statistical methods in human genetic analysis and human population genetics.  As with HGEN 370, each student is expected to read and critically analyze the original literature, and present at least one paper during the semester.  SPRING. Li and Samuels.

HGEN 8385. Fundamentals of Genetic Analysis: This course is designed to accomplish three goals: 1) Introduce students to critical topics of genetic research, 2) introduce students to important areas of genetic research not covered in first year coursework, and 3) promote an understanding of classical genetic analysis by learning genetics using the original literature. Emphases will be placed on research problems that utilize the full power of genetic analysis. SPRING. [1] Mortlock.
HGEN 8385 Reading Schedule

HGEN 8390 Human Genetic Epidemiology: This course will cover in detail the study design and methods of modern genetic epidemiology.  This will include concepts of familial aggregation, linkage analyses, population genetics as it is applied to studies of human traits, and association studies - both candidate genes and genome wide association. The concept of linkage disequilibrium and its use in disease-gene studies will be extensively discussed.  The underlying principles of each approach will be developed and current methods and software programs used to perform these will be discussed. Emphasis will be placed on the advantages and disadvantages of each approach and how to best design a genetic epidemiology study. SPRING [3] 

HGEN 8391 BioVU Study Design: This is a practical, hands-on course on the design of research projects using the de-identified version of Vanderbilt.'s electronic medical record (Synthetic Derivative, SD) and DNA bio-repository (BioVU). Students will go through the process of developing a BioVU project proposal, from initial project design through construction of a written proposal and application process. Topics covered will include: an overview of the clinical data available in the Synthetic Derivative (SD), techniques for defining phenotypes within the SD, proper control definition, limitations of BioVU for research, available genetic data, common problem with study design and how to address them, population stratification, IRB approval procedures and other RCR topics, and the BioVU application workflow. The goal of this course is to guide the student through the process of developing a practical BioVU proposal to the point of application submission. Prerequisite: Consent of instructor. [3] Spring. Samuels and staff.      

HGEN 9999 Dissertation Research in Human Genetics:  For students after admission into candidacy for Ph.D. degree. FALL, SPRING, SUMMER. Hours and credit by arrangement. Samuels and Staff.