The aim of this course is to describe the organization of the genome and regulation of gene expression as it relates to medical genetic disorders and diagnosis. This course also describes the types and extent of genetic variation in the human genome, and explains how these variations affect disease states and the diversity of normal variation. Moreover, students obtain a family history to draw and interpret a pedigree and perform a pedigree analysis by applying principles of inheritance in calculating genetic risk for a variety of genetic disorders and patterns of inheritance. Students will incorporate their knowledge of population genetics to calculate genetic risk based on carrier frequency within a population. The course seeks to teach students to identify the ethology of genetic disorders, including: single gene disorders, disorders of chromosome abnormalities, inborn errors of metabolism, multifactorial genetic disorders, and cancer genetics. This course helps students interpret results of cytogenetic, molecular, and biochemical genetic tests to aid in the diagnosis of genetic diseases. The course will also explain the clinical, ethical, and social implications of genetic diagnosis, family health, prediction, and personalized medicine.
Course Objectives & Outcomes
This course provides students with information regarding the organization of the genome and regulation of gene expression as it relates to medical genetic disorders and diagnosis. Additionally, this course teaches students how to identify the ethology of genetic disorders.
At the end of this course, the student will be able to:
- A variety of mutagens that causes mutations.
- The mechanisms of DNA repair.
- Genetic disorders (types, molecular basis of pathogenesis, and inheritance).
- How changes to DNA and chromosomes can affect gene function or dosage.
- The chromosomal basis of inheritance and how alterations in chromosome number or structure may arise during mitosis and meiosis.
- Techniques of genetic engineering and their applications.
- Major ethical issues in genetics.
- The potential uses and misuses of genetic information.
1. Turnpenny, P. and Ellard, S. (2012): Emery’s Elements of Medical Genetics. 14th ed. Elsevier, Churchill Livingstone.
2. Strachan, T. and Read, A. (2012): Human Molecular Genetics, 4th Edition, Garland Science/Taylor & Francis Group, New York.
Course ID: GENTC 557
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