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Transcript
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