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Genetics of Epidemiology and Disease - Fall 2004

Wednesdays, 10:00 - 12:00 noon, Room L320

Course Director - Dr. Lindsay Farrer

Faculty: Drs. Kenn Albrecht, Clint Baldwin, Lindsay Farrer, Carolien Panhuysen, Marsha Wilcox, Diego Wyszynski

Primary Textbook: Strachan, T. & Read R. Human Molecular Genetics, 3rd Edition. Garland Science / Taylor & Francis Group, October 2003.

NOTE ON REFERENCES: Required or strongly recommended readings are marked with an asterisk (*). The other readings are recommend for addtional background in the subject area and supplement the required readings. Other readings may be recommended upon request from the instructor.

Syllabus (abridged)

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September 8
Lecture 1: Introduction (Dr. Farrer)

*1. Human Molecular Genetics. Ch. 4, pp. 102-110.
*2. Jorde, Carey, Bamshad & White. Medical Genetics, 3rd Edition. Mosby, 2003. Ch 1 (handout)

September 15
Lecture 2: Genetics Tools and Genomics (Dr. Baldwin)
*2. www.ncbi.ncm.nih.gov
September 22
Lecture 3: Chromosomes and Chromosome Abnormalities (Dr. Thiagalingam)
*1. Human Molecular Genetics, Ch. 2, pp. 35-38
*2. Human Molecular Genetics, Ch. 4, pp. 104
*3. Human Molecular Genetics, Ch. 10, pp. 301-306
September 29
Lecture 4: Cancer Genetics (Dr. Thiagalingam)
*1. Human Molecular Genetics, Ch. 17, pp. 487-507
2. Thiagalingam S, Foy RL, Cheng K-H, Lee HJ, Thiagalingam A, Ponte JF. Loss of heterozygosity as a predictor to map tumor suppressor genes in cancer: molecular basis of its occurrence. Curr Opin Oncol. 2002 Jan;14(1):65-72. Review. Erratum in: Curr Opin Oncol 2002 May;14(3):374.
3. Cairns P, Sidransky D. Molecular methods for the diagnosis of cancer. Biochim Biophys Acta. 1999 Mar 25;1423(2):C11-8.
4. Fahraeus R, Fischer P, Krausz E, Lane DP. New approaches to cancer therapies. J Pathol. 1999 Jan;187(1):138-46. Review.
October 6
Lecture 5: Molecular Genetics of Common Disease (Dr. Baldwin)
*1. TBA
October 13
Lecture 6: Population Genetics (Dr. Wyszynski)
There are no assigned readings for this lecture.
October 20
Lecture 7: Methods of Human Linkage Analysis (Dr. Panhuysen)
*1. TBA
October 27
MID-TERM EXAM
November 3
Lecture 8: Mouse Genetics and Mouse Models of Human Disease (Dr. Albrecht)
*1. Silver LM. Mouse Genetics. Chapters 3 (3.2-3.3.4.2), 6(6.1-6.1.3, 6.3.1-6.5.3), 7 (7.1-7.2.2.2, 8.3.6.1-8.3.6.5), 9(9.4.1-9.4.5). This book is out of print but can be accessed online for free at www.informatics.jax.org/silver.
*2. Human Molecular Genetics. Ch 20, pp. 575-608, Ch. 14.3.5, pp. 422-423, including Box 14.2)
November 10
Lecture 9: Fundamental Concepts in Gene Mapping of Mendelian Diseases (Dr. Farrer)

*1. Haines JL, Pericak-Vance MA (eds). Approaches to Gene Mapping in Complex Human Diseases. Wiley-Liss, New York, 1998. Chapters 1, 11, & 15.
2. Farrer LA, Bowcock AM, Hebert JM, Bonne-Tamir B, Sternlieb I, Giagheddu M, St George-Hyslop P, Frydman M, Lossner J, Demelia L, et al. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology. 1991 Jul;41(7):992-9.

3. Bowcock AM, Tomfohrde J, Weissenbach J, Bonne-Tamir B, St George-Hyslop P, Giagheddu M, Cavalli-Sforza LL, Farrer LA. Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. Am J Hum Genet. 1994 Jan;54(1):79-87.

November 17
Lecture 10: Identifying the Genetic Contribution to a Trait (Dr. Wilcox)
*1. TBA
November 24 NO LECTURE
December 1
Lecture 11: Study Designs for Gene Identification in Complex Traits (Drs. Panhuysen and Wilcox)
*1. TBA
December 8
Lecture 12: Confirming the Responsibility of a Gene in Trait Etiology (Drs. Wyszynski and Albrecht)
*1. TBA
December 15
Lecture 13: Pathways in the Natural History of Disease (Dr. Wilcox)
*1. TBA
December 22 FINAL EXAM
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