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GENETIC EPIDEMIOLOGY Dr. Priya Duggal, Director

In the “post-genomic era” where larger amounts of genetic data are now readily available, it has become increasingly important to design studies and use analytical techniques that will accurately detect and describe the role genes play in human disease. Genes alone can cause some human diseases, and the public health impact of such Mendelian diseases must be considered. However, for most diseases with complex etiology, many genes and

environmental factors contribute to risk. The field of genetic epidemiology is focused on designs and analytical techniques to identify how genetic variations contribute to the risk of disease. The academic program in genetic epidemiology provides background in human genetics and a comprehensive understanding of study designs and statistical approaches used in genetic epidemiology. These include assessment of heritability and familial

aggregation, genetic linkage analysis, genetic association analyses in population-based and family-based studies, gene-gene and gene-environment interactions, structural variants and the analysis of high-throughput genomic data, including data from whole-genome microarray and next generation sequencing experiments.

The sequence of genetic epidemiology courses taken during the first year offers a broad based introduction to techniques of disease variant identification and risk assessment. These courses complement the required epidemiology and biostatistics sequences and emphasize how specialized genetic and genomic techniques can be merged with conventional

epidemiologic study designs. Other requirements of the genetic epidemiology concentration (e.g., Introduction to Molecular Biology) are designed to insure the student has a firm understanding of the molecular underpinnings of genetics or the necessary programming demands (e.g. Statistics for Genomics). In addition to the required courses, required journal clubs and ‘research in progress’ are scheduled monthly, which offers an opportunity for informal discussions among students and faculty. The monthly Genetic Epidemiology Seminar Series, held jointly with the Institute for Genetic Medicine, serves as a forum for presentations of research by faculty within and outside of JHU (attendance required). In addition, a Genetic Research Day in collaboration with the Institute for Genetic Medicine occurs in the Fall/Winter and is an opportunity for students to present their work to the broader JHU research community.

The genetic epidemiology program’s faculty are actively engaged in a wide range of research

projects, including investigations of: birth defects, infectious diseases, cancer, eye and vision

disorders, renal and cardiovascular diseases, pulmonary disease, chronic kidney disease,

diabetes and metabolic disorders, and developmental disorders. In addition our faculty are

actively involved in methodologic research to develop and assess study designs and

statistical methods for genetic epidemiology and genomics. Current and former students

have conducted their thesis research on a variety of topics including genetic susceptibility to

diabetes, AIDS, bipolar disorder, breast cancer, and asthma. Through collaborative research

projects both within and outside the Department, students are offered the opportunity to

develop their own ideas and implement and advance the analytical methods introduced in

the required courses.

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GENETIC EPIDEMIOLOGY

Required Core Courses in Genetic Epidemiology All students are required to take the courses below:

Course Title (credits)

340.731 Principles of Genetic Epidemiology 1 (4) 340.732 Principles of Genetic Epidemiology 2 (3) 340.733 Principles of Genetic Epidemiology 3 (3) 340.734 Principles of Genetic Epidemiology 4 (2)

120.602 Introduction to Molecular Biology (4) [pass/fail, suggested for 2

nd

year]

140.688 Statistics for Genomics (3) [suggested for 2

nd

year]

All students are required to take at least one of the courses listed below to meet the Departmental requirements of an epidemiologic survey course outside of their area of concentration (minimum 3 credits).

Course Title (credits)

340.607 Introduction to Cardiovascular Disease Epidemiology (4) 340.616 Epidemiology of Aging (3)

340.624 Etiology, Prevention & Control of Cancer (4) 340.627 Epidemiology of Infectious Disease (4) 330.603 Psychiatric Epidemiology (3)

380.664 Reproductive and Perinatal Epidemiology (4)

Recommended Courses

Course Title (credits)

340.640 Eye Disease: Epidemiology and Control (1)

#

340.717 Health Survey Research Methods (4) 120.608 Genomics for Public Health (3)

140.632 Introduction to SAS Statistical Package (4) 140.636 PERL for Bioinformatics (4)

#@

140.638 Analysis of Biological Sequences (3) 140.641 Survival Analysis (3)

140.644 Statistical Machine Learning: Methods, Theory and Applications (4) 140.655 Analysis of Longitudinal Data (4)

140.778 Advanced Statistical Computing (3)

180.640 Molecular Epidemiology and Biomarkers in Public Health (4) 260.611 Principles of Immunology I (4)

260.612 Principles of Immunology II (4)

330.619 Analytic Strategies In The Genetics of Psychiatric, Behavioral And Other Complex Diseases (3)

#

required for Eye & Vision Trainees;

@

required for MD-GEM fellows

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_________________________________________________________________

GENETIC EPIDEMIOLOGY

School of Medicine Courses (also recommended)

Course Title (credits)

*ME 710.734 Evolution of Ideas in Human Genetics

@

*ME 710.700 Advanced Topics in Human Genetics

@

(3

rd

Q)

*ME 710.702 Molecular Mechanisms of Disease (4

th

Q)

* for more information, please call Dr. David Valle/Sandy Muscelli at 410 955-4260.

@

required for MD-GEM fellows

With your advisor, each student should develop a tailored academic program that balances the students interests academically and for future career.

Required Courses by Term First Term:

YEAR ONE

Course Title (credits)

550.860.82 Academic and Research Ethics (0) 340.751 Epidemiologic Methods 1 (5)

140.621 Statistical Methods in Public Health I (4)

OR

140.651 Methods in Biostatistics 1(4)*

340.731 Principles of Genetic Epidemiology 1 (4) 340.860 Current Topics in Epidemiologic Research (1)

550.600

+

Responsible Conduct of Research (1)

OR

360.665

+

Research Ethics and Integrity: US and International Issues (3) (3

rd

Term)

YEAR TWO

Course Title (credits)

120.602 Introduction to Molecular Biology (4)[Pass/Fail, Recommended 2

nd

year]

340.863 Doctoral Seminar in Epidemiology, Part 1 (3) [Doctoral Students only]

340.860 Current Topics in Epidemiologic Research (1)

Second Term:

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Course Title (credits)

340.732 Principles of Genetic Epidemiology 2 (3) 550.865 Public Health Perspectives on Research (2) 340.860 Current Topics in Epidemiologic Research (1)

YEAR TWO

Course Title (credits)

340.863 Doctoral Seminar in Epidemiology, part 2 (3) (Doctoral Students only) 340.860 Current Topics in Epidemiologic Research (1)

Third Term:

YEAR ONE

Course Title (credits)

340.753 Epidemiologic Methods 3 (5)

340.733 Principles of Genetic Epidemiology 3 (3)

140.623 Statistical Methods in Public Health III (4)*

OR

140.653 Methods in Biostatistics III (4)*

340.860 Current Topics in Epidemiologic Research (1)

550.600

+

Responsible Conduct of Research (1)

OR

360.665 Research Ethics and Integrity: US and International Issues (3) (3

rd

Term)

YEAR TWO

Course Title (credits)

340.863 Doctoral Seminar in Epidemiology, part 3 (3) (Doctoral Students only) 340.860 Current Topics in Epidemiologic Research (1)

Fourth Term:

YEAR ONE

Course Title (credits)

340.754

+

Methodologic Challenges in Epidemiologic Research (5)

140.624 Statistical Methods in Public Health IV (4) OR

140.654 Methods in Biostatistics IV (4)*

340.734 Principles of Genetic Epidemiology 4 (2)

340.860 Current Topics in Epidemiologic Research (1)

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_________________________________________________________________

GENETIC EPIDEMIOLOGY YEAR TWO

Course Title (credits)

340.715

+

Problems in the Design of Epidemiologic Studies (4) [Doctoral Students only]

140.688 Statistics for Genomics (3) [recommended 2

nd

year]

340.860 Current Topics in Epidemiologic Research (1)

*

Doctoral students are encouraged to take the Methods in Biostatistics series (140.651,

140.652, 140.653, 140.654). May be taken in the 2

nd

year after taking the Statistical Methods in Public Health series (140.621, 140.622, 140.623, 140.624) in the 1

st

year.

*This course has a separate lab

Recommended coursework for the second year of the program is listed below. Masters' students should choose electives from available epidemiology and non-departmental courses in accordance with their own interests, after consulting with their advisor. All master's students should enroll for some credits of 340.820, Thesis Research credits, no later than the second term of the second year in order to complete their thesis within the two years allotted by the program.

Recommended Courses by Term First term:

Course Title (credits)

140.636 PERL for Bioinformatics (4) 260.611 Principles of Immunology I (4) 140.641 Survival Analysis (3)

Second Term:

Course Title (credits)

260.612 Principles of Immunology II (4)

340.717 Health Survey Research Methods (4) (2

nd

yr doctoral students) 340.624 Etiology, Prevention & Control of Cancer (4)

Third Term:

Course Title (credits)

180.640 Molecular Epidemiology and Biomarkers in Public Health (4)

*ME 710.700 Human Genetics

Fourth Term:

References

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