HSCI-356/BIOL-374: Genome instability and human disease
Spring 2013
Faculty: Ronit Yarden, PhD and Jan LaRocque, PhD
Contact: riy2@georgetown.edu; jlk99@georgetown.edu
Office hours:
Dr. Yarden:
STM 260
By appointment
Dr. LaRocque:
STM 265
Tuesdays 10:00 AM– 12:00 PM
Wednesdays 2:30 PM – 4:00 PM
Mailbox: STM 254D
Class room/time: STM 111; T Th 2:00-3:15PM
Credits: 3
Required text: Primary literature, as assigned.
Course description: Our genome is subjected to multiple insults from endogenous and
exogenous environmental sources that disturb its integrity. Cells have developed surveillance
mechanisms that recognize and respond to cell and DNA damage including DNA repair, cell
cycle checkpoints, and programmed apoptosis. When these pathways are compromised or
disrupted, the individual is at risk for genomic instability that can lead to a number of diseases
and conditions, including cancer, neurological degeneration, immunodeficiency, premature
aging, developmental defects, and infertility. This course will focus on the topic of genome
instability and its relation to human disease, providing background and historical development of
studies, and focusing on molecular mechanisms of these pathways while incorporating current
developments in these areas.
Course objectives:
1) Describe the factors that compromise genome integrity and the impact on human health.
2) Analyze assays and methods used to measure genome instability.
3) Evaluate current and historical review articles of various topics in the field of genome
instability.
4) Interpret primary scientific literature and critically evaluate scientific data within.
5) Develop written and oral scientific communication skills.
Learning format and course expectations: Each topic will be covered in of two sessions, a
lecture to provide illumination of the key concepts and a primary literature discussion session.
Students are expected to attend class and participate in class and group discussions, particularly
during the literature discussion. Additionally and when appropriate, students will attend a
relevant seminar on topics addressed throughout the semester or related topics.
Grading: Students will earn a final grade based on the following:
40% Participation in literature discussion
20% Weekly homework assignments
25% Written review
15% Oral presentation
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HSCI-356/BIOL-374: Genome instability and human disease
Spring 2013
The final letter grade is determined by the total percentage points earned, as per the University
and NHS.
Letter Grade
A
A–
B+
B
B–
C+
C
C–
D+
D
F
Grade Range
93-100
92.9-90
87-89.9
83-86.9
80-82.9
77-79.9
73-76.9
70-72.9
67-69.9
60-66.9
< 60
Campus resources: If you believe you have a disability that will affect your ability to succeed in
this course, you should contact the Academic Resource Center (arc@georgetown.edu) to register
as a student with a disability or for an evaluation referral. The Academic Resource Center is the
campus office responsible for reviewing documentation provided by students with disabilities
and for determining reasonable accommodations in accordance with the Americans with
Disabilities Act (ADA) and University policies. The Center is located in the Leavey Center,
Suite 335. You may access the ARC website at http://ldss.georgetown.edu/.
Academic integrity: As signatories to the Georgetown University Honor Pledge, and indeed
simply as good scholars and citizens, you are required to uphold academic honesty in all
aspects of this course. You are expected to be familiar with the letter and spirit of the Standards
of Good Conduct outlined in the Georgetown Honor System and the Honor Council Website. As
faculty, I too am obligated to uphold the Honor System, and will report all suspected cases
of academic dishonesty.
Religious observances policy: Georgetown University promotes respect for all religions. Should
you need to miss a class, assignment, or exam on a given day due to observance of a major
holiday or related travel, you shall remain responsible for all work. Students should notify
professor in writing at the beginning of the semester of religious observances that conflict with
the class. The Office of the Provost, in consultation with the Campus Ministry and the Registrar,
will publish, before classes begin for a given term, a list of major religious holidays likely to
affect Georgetown Students.
* Please note that topics and timeline is subject to change upon notice of the professor(s). Every
effort will be made to keep assignments on schedule. Any changes to these will include ample
notification to students.
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HSCI-356/BIOL-374: Genome instability and human disease
Spring 2013
Topic
Dates
1
Jan. 10th
Topic
Course introduction
Background: Heredity, sources of genetic mutations, genome
instability repair pathways (RY and JL)
2
Jan. 15, 17
Meiotic recombination and reproductive health (JL)
3
Jan. 22, 24
DNA damage checkpoint signaling I (RY)
4
Jan. 29, 31
DNA damage checkpoint signaling II (RY)
5
Feb. 5, 7
NHEJ deficiency, Ligase IV syndrome, and SCID
immunodeficiencies (JL)
6
Feb. 12, 14
Genome instability and cancer (RY)
7
Feb. 19, 21
DNA crosslink repair and Fanconi anemia (RY)
8
Feb. 26, 28
RecQ helicases, cancer predisposition and premature aging (JL)
Topic for review paper DUE on Feb. 28th
9
Mar. 10, 12
NER and Xeroderma pigmentosum (JL)
10
Mar. 19, 21
Mismatch repair and HNPCC (JL)
TBD
Mar. 26
Abstract/summary and outline of review paper DUE
11
Apr. 2, 4
Impact of the environment on genome integrity: somatic
mutations, epigenetics (RY)
12
Apr. 9, 11
DNA damage and nervous system disorders (JL)
Apr. 16, 18
Oral Presentations
Apr. 23, 25
Genome integrity in the context of systems biology and global
genomic modifications (RY)
13
Final review paper DUE April 25th
3