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draft 9-2-10 JLFK IBS746 Graduate Human Genetics Fall 2010 (4 credit hrs, fall semester) Faculty: Judy Fridovich-Keil (Course Director, [email protected]), Karen Conneely ([email protected]), Dave Cutler ([email protected]), Mike Epstein ([email protected]), Andy Faucett ([email protected]), Katie Rudd ([email protected]), Stephanie Sherman ([email protected]), Alicia Smith ([email protected]), Cheryl Strauss ([email protected]), and Mike Zwick ([email protected]). Teaching Assistant: Meredith Roberts ([email protected]) Prerequisites: Undergraduate level classes in biochemistry and molecular genetics, or the equivalent. Text: We will not follow a specific textbook in this class but you are encouraged to purchase/ borrow/ check out a textbook on human genetics to use for background reference. If you already own a good and reasonably current text on human genetics feel free to use that. If you want to use the NCBI Bookshelf (free access!) you can find an electronic copy of the text Human Molecular Genetics 2nd Edition (by Strachan and Read) at http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=hmg.TOC&depth=2. Goals: This class will provide a foundation of knowledge in contemporary human genetics and will empower students to become critical readers of the primary literature. Format: Class will meet Tues/ Thurs in the fall semester, 9am-11am in SOM Room 153A EXCEPT for Sept 28 and 30, when class meets in SOM 178P, and Dec 9, when class meets in Whitehead 300. • The course syllabus is arranged into 3 unequal modules. • Class meetings will be a mixture of lecture format and paper discussion format. • Each week students will read and discuss primary research papers. • Prior to class each student must submit a completed "paper review" form for each paper to be discussed in class that day. Students are encouraged to discuss the papers with each other prior to class, but each student must turn in a form that is their own work. The purpose of these forms is to ensure that each student reads and contemplates each paper in depth prior to class. • We will follow the guidelines of the Emory University Honor Code, meaning do your own work, don’t plagiarize, do not give or receive aid on exams, etc, as explained in detail at the following web site: http://college.emory.edu/current/standards/honor_code.html. Grades: will be calculated as follows: 50% module 1 and module 2 exams (each 25%) 30% class participation (includes paper review forms and science writing exercise) 20% grant/ presentation page 1 of 3 draft 9-2-10 JLFK Module One: Foundations and Origins Date Faculty Topics Course overview / What is human genetics? Intro to concepts and tools Tues (includes Mendelian and non08/31/10 Mendelian traits, pedigree analysis, tools of mol genetics, trait vs disease) Forces remodeling the human Thurs genome: DNA mutation and repair, 09/02/10 transposons, etc. Human origins and genetic diversity within humans (genetic diversity of Tues sequence and copy number, nuclear 09/07/10 vs. mitochondrial genetics and Y chromosome genetics) Thurs Evolutionary divergence between 09/09/10 humans and primates Tues Favorite internet-based tools for 09/14/10 human genetics YOUR human origins: family pedigree study, and participation in The Human Thurs Genographic Project – what is it, 09/16/10 markers studied, what do the results mean or not mean – collect samples Overview of gene and genome Tues structure and regulation, including 09/21/10 epigenetics More on gene regulation and Thurs epigenetics as forces driving normal 09/23/10 development and homeostasis Tues Chromosomes, recombination, 09/28/10 meiosis, non-disjunction (include SOM178P methods for assessment) Thurs Normal and abnormal chromosomal 09/30/10 variation among humans – what we SOM178P see and what it means Who owns your genetic information? Tues Ethics and privacy issues in medicine, 10/05/10 research, and the biomedical marketplace Thurs Module One Exam 10/07/10 Readings FridovichKeil check Blackboard site Zwick check Blackboard site Cutler/ Zwick check Blackboard site Cutler/ Zwick Cutler/ Zwick check Blackboard site check Blackboard site FridovichKeil check Blackboard site Smith check Blackboard site Rudd check Blackboard site Rudd check Blackboard site Rudd check Blackboard site Faucett (and Sherman) check Blackboard site Tues 10/12/10 FALL BREAK Weds 10/13/10 *** Students must submit a 500 word essay (email MS Word doc to [email protected]) explaining one of the papers discussed in the course so far *** these essays will be edited by Cheryl Strauss and used as the basis for the Writing Workshop on ******** page 2 of 3 draft 9-2-10 JLFK Module Two: Genes that influence normal and abnormal human traits Date Thurs 10/14/10 Tues 10/19/10 Thurs 10/21/10 Tues 10/26/10 Thurs 10/28/10 Tues 11/02/10 Thurs 11/04/10 Tues 11/09/10 Thurs 11/11/10 Friday 11/12/10 Tues 11/16/10 Thurs 11/18/10 Tues 11/23/10 Thurs 11/25/10 Topics Is that trait genetic? Degree of heritability? single-gene Mendelian vs. non-Mendelian/ complex traits Finding genes that contribute to traits: genetic linkage studies Finding genes that contribute to traits: genetic association studies Finding genes that contribute to traits: more on linkage and association studies Genetics and reproduction (natural and assisted) Scientific Writing Workshop (part 1) Scientific Writing Workshop (part 2) Genes and environment Faculty Readings Epstein/ Conneely check Blackboard site Epstein/ Conneely Epstein/ Conneely Epstein/ Conneely Faucett Cheryl Strauss Cheryl Strauss Smith check Blackboard site check Blackboard site check Blackboard site check Blackboard site check Blackboard site check Blackboard site check Blackboard site Pharmacogenetics and “personalized” check Blackboard site Smith medicine” Student grant project DRAFT Specific Aims pages due (email MS Word file to [email protected] by 12 noon) ***post samples on web site Behavioral Genetics go over results from Human Genographic Project testing and discuss Specific Aims Smith check Blackboard site FridovichKeil check Blackboard site Module Two Exam THANKSGIVING BREAK Module Three: Student Presentations Tues 11/30/10 Thurs 12/02/10 Mon 12/06/10 Tues 12/07/10 Thurs 12/09/10 WH 300 Tues 12/14/10 TA/student run TA/student run Practice presentations Practice presentations FINAL version of Specific Aims page due (email to [email protected]) Graded student presentations faculty Graded student presentations faculty Post mortem (pizza and discussion re how to improve the course for next year) page 3 of 3