HSCI-190.LaRocque.Spring-12-v5.doc

HSCI-190.LaRocque.Spring-12-v5.doc - HSCI-190 Introduction...

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HSCI-190 Introduction to Genetics and Genomics Spring 2012 Faculty: Jan LaRocque, PhD Contact : [email protected] ; 202.687.2807 Office hours: STM 265 Tuesdays 2:00 – 4:00 PM Fridays 10:00 am – 12:00 Mailbox: STM 261; under Human Science, alphabetized by “Kappas LaRocque, Jan” TAs : Rojit Mukherjee ( [email protected] ); Last names A-J Muneeb Rehman ( [email protected] ); Last names K-W Class time: Mondays, 9:00 – 10:50 AM Room: STM 107 Credits: 2 Required text: Medical Genetics, 4 th edition. Jorde, Carey, Bamshad. Mosby, (2010). Contains an online searchable text. Mosby Elsevier, Philadelphia, PA ISBN: 978-0-323-05373-0 Required reading: Mapping Fate: A Memoir of Family, Risk , and Genetic Research by Alice Wexler. University of California Press (1995) ISBN 0-520-20741-6 This course is designed to provide students with a basic understanding of the form and function of DNA, genomic organization, cytogenetics, principles of simple and complex inheritance, whole genome association, and genomic diversity in disease. Translational and clinical applications will be emphasized throughout the course, utilizing case presentations, take home assignments and lectures. Course Objectives : Upon completion of this course, students will be able to: 1. Construct a 3 generation pedigree 2. Describe the basic principles of cytogenetics and what disease conditions result from chromosomal abnormalities 3. Understand mechanisms for recognition and exploration of familial patterns of disease inheritance, whether classical Mendelian or common disease 4. Explain how genetic variation influences biological variation in health and disease 5. Describe the contribution of genetic variation to treatment options and outcomes 6. Demonstrate genetic/genomic information acquisition skills relevant to diagnoses, prognosis and treatment care plans 7. Describe basic principles of discussing genetic risk and diagnoses in the health care setting 8. Explain the basic principles of genetic testing and interpret test results 9. Demonstrate awareness of the ethical dimensions related to genetics, genetic testing, and genomics in health care.
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