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First in a four-term series. Presents fundamental concepts and methods in genetic epidemiology. Reviews basic terminology of genetics, introduces basic principles of population genetics, and provides an overview of various genetic epidemiology study designs, covering basic analysis, inferences, plus their strengths and limitations. Presents methods for assessing familial aggregation/correlation, and covers statistical techniques for modeling inheritance of complex phenotypes on family data. Presents both linkage and association analyses, with emphasis on how these are used in genetic epidemiology. Explains different study designs commonly used in genetic epidemiology to identify the genetic basis of common, complex diseases.
After completing this course, you should be able to do the following:
- Discuss and give examples of different types of study designs used in the field of genetic epidemiology
- Identify basic terminologies in the field of human genetics
- Describe the basic principles behind major molecular biology techniques, such as PCR, and their applications in genetic epidemiology studies
- Identify various exposures or markers used in genetic epidemiology studies
- Discuss the Hardy-Weinberg principle and be able to estimate allele and genotype frequencies
- Calculate simple statistics, such as odds ratios and LOD scores
Differentiate between linkage and association studies
Examine the difference between family-based and population-based studies
Differentiate between direct and indirect association studies
Interpret results of a linkage study
Interpret results of an association study
Select an appropriate study design for addressing a particular question
Assess the inferences drawn from the different genetic epidemiology studies
The course textbook is Statistical Methods in Genetic Epidemiology, by Duncan Thomas, (Oxford University Press), which is available at Amazon.com or at Matthews Johns Hopkins Book Center.
Matthews Johns Hopkins Medical Book Center
1830 East Monument Street
Baltimore, MD 21205 USA
410.955.3931
800.266.5725
410.955.0576 Fax
http://www.jhumedbooks.com/
Other useful texts:- Fundamentals of Genetic Epidemiology, by Khour, Beaty, and Cohen
- Basic Human Genetics, by Mange and Mange
- Human Molecular Genetics, by Strachan and Read
- Approaches to Gene Mapping in Complex Human Disease, by Haines and Pericak-Vance
- Principles of Population Genetics, by Hartl and Clark
Recommended articles can be found on the course Web site.
Grading for this course will be based on two lab exercises, group participation, a midterm exam, and a final examination.
The final class grade will be distributed as follows:
• Labs—20% (based on two graded labs, each lab is worth 10% of the final grade)
• Participation/Group Evaluation—5%
• Mid-term exam—30%
• Final exam—45%
Labs:
Although only two lab exercises are graded, there will be seven other lab exercises that students will be expected to work on in their assigned "lab groups." Prior to discussing the exercise problems with their lab group, students are asked to work on these exercises on their own, before their virtual group meetings. Participation in these virtual lab meetings will be part of the course grade.
Participation/Peer Evaluation:
At the end of the course, students will be required to evaluate their lab partners' participation in the lab group by completing a Peer Evaluation form. This form is available in the Online Library for the duration of the course; however, it should not be submitted until the completion of all group work (after the last lab assignment has been completed).
On this form, the student will rate the performance of each member in their lab group on a scale from 1 (strongly disagree) to 4 (strongly agree) for the six following criteria:
1. Is punctual in attending scheduled group sessions
2. Contributes meaningfully to group discussions
3. Completes group assignments on time
4. Prepares work in a quality manner
5. Demonstrates cooperative and supportive attitude
6. Contributes overall to the success of the project
Thus, each student will receive a total score ranging from six to twenty-four points from each of their lab group members. The participation grade (5% of final grade) for each student will then be calculated as an average of these total scores.
The Peer Evaluation Form also contains space to provide open comments to five general feedback questions about the group work process. Responses to these questions will not directly factor into the student’s participation grade.
If a student does not submit a completed Peer Evaluation Form, that student will receive a participation score of zero; the participation scores for their lab group members will not be penalized.
The Peer Evaluation Forms will remain strictly confidential; only the course instructor and TAs will view them. Each student will receive only their final participation score, not the comments/scores from their peers.
Mid-term examination:
A closed-book mid-term examination of the material covered up to, and including, segregation analysis will be administered using the online Quiz Generator. The exam must be taken on one of the approved testing dates which are indicated on the course schedule next to the midterm exam listing. Please set aside roughly one hour for this exam. The student should have a calculator available while taking the exam.
The conduct of this examination is to follow the Johns Hopkins University Academic Ethics in the Policy and Procedures Memorandum. Failure to follow the ethical guidelines will result in failing the course. The student will be required to agree to abide by an honor code, as well as the instructions presented with the exam, as the first question (true/false) on the Midterm Exam. If the student does not agree (clicks false) he/she will receive a score of zero for the Midterm Exam.
Final examination:
A closed-book comprehensive examination of all the course material will be administered using the online Quiz Generator at the end of the course. A proctor system will be used to administer the examination; the proctor will enter a password into the online Quiz Generator to allow the student to access the exam and remain present while the student completes the exam. The exam must be taken on one of the approved testing dates which are indicated on the course schedule next to the final exam listing. Please set aside roughly two and a half hours (2.5 hours) to take this exam. The student should have a calculator available while taking the exam.
The student’s proctor will receive an email from the course approximately one week before the earliest approved testing date (indicated on the course schedule next to the final exam listing) with the password he/she will need to enter in order for the student to access the Final Exam. The student will also receive an email at that time informing him/her that a password has been sent to his/her proctor. The student should confirm that his/her proctor has received a password no later than two days before his/her scheduled exam date and contact the course instructor/TAs immediately if the proctor has not received the password or if there are any questions about how to access the exam.
For this exam, it is the responsibility of the student to:
• Identify a proctor (see Proctor Selection below)
• Determine the exact date and time (within the requirements detailed here)
• Secure a location
• Supply a computer with access to the course website and a calculator
• Be sure that their proctor has received the password required to access the exam
The conduct of this examination is to follow the Johns Hopkins University Academic Ethics in the Policy and Procedures Memorandum. Failure to follow the ethical guidelines will result in failing the course. The student will be required to agree to abide by an honor code, as well as the instructions presented with the exam, as the first question (true/false) on the Final Exam. If the student does not agree (clicks false) he/she will receive a score of zero for the Final Exam.
Proctor Selection:
Select a professional person as your proctor—a work supervisor, for example, or a librarian, a member of the clergy, etc., following the specified DED proctored exam guidelines. This person cannot be related to you in any way. Confirm your proctor’s availability so that he/she will be present for the duration of the exam (2.5 hours) on one of the approved testing dates which are indicated on the course schedule next to the final exam listing. Then complete and submit the proctor selection form on the guidelines page; you must submit this form no later than the due date indicated on the course schedule.
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Linda Kao, PhD
Assistant Professor
Department of Epidemiology
615 N. Wolfe St., Room W6513
Baltimore, MD 21205
410-614-0945
wkao@jhsph.edu
Dana Behneman
The Johns Hopkins Bloomberg School of Public Health
Department of Epidemiology
615 North Wolfe Street
Baltimore, MD 21205
Andrew Jaffe
The Johns Hopkins Bloomberg School of Public Health
Department of Epidemiology
615 North Wolfe Street
Baltimore, MD 21205
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Concerns
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Contact
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Concerns about course topics and assignments
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Technical concerns about the functionality and operation of course Web pages (before emailing, please make sure that you can replicate the problem)
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- DEHelp, the central help system for all tech support inquiries related to DED courses
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Technical help on weekends
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- JHSPH User Support: 410-955-3781
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Concerns about your Internet connection
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- Your Internet service provider (e.g., AT&T, Erols, etc.)
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Concerns about your personal software
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The academic ethics code, as discussed in the Policy
and Procedure Memorandum for Students, March 31, 2002, will be adhered
to in this class.
Disability Support Services
If you are a student with a documented disability who requires an academic accommodation, please contact Betty H. Addison in the Office of Career Services and Disability Support: dss@jhsph.edu, 410-955-3034, or Room E-1140.
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