Medical genetics is a rapidly advancing field of medicine. It is now recognized that genetic mechanisms play a fundamental role in the pathogenesis and treatment of diseases and in the in the maintenance of health.
This course is designed to provide an overview of human genetic concepts and clinical disorders that have a genetic component. The course seeks to teach the students to apply their knowledge of the principles of human genetics to a variety of clinical problems. It surveys many clinical areas including cytogenetics, molecular genetics, biochemical genetics, population genetics and clinical genetics. The course is organized roughly according to genetic etiology and pathophysiology. Quizzes and exams will seek to emphasize important concepts.
Course Objectives and Goals
The educational objectives are largely derived from the American College of Medical Genetics recommendations about undergraduate education in medical genetics and the Core Curriculum in Genetics recommended by the Association of Professors of Human and Medical Genetics.
Students should be able to:
1. Describe the organization of the genome and regulation of gene expression as it relates to medical genetic disorders and diagnosis.
2. Describe the types and extent of genetic variation seen in the human genome and explain how these variations affect disease states and diversity of normal variation.
3. Obtain a family history and draw and interpret a pedigree.
4. Perform pedigree analysis and apply principles of inheritance in calculating genetic risk for a variety of genetic disorders and patterns of inheritance; and incorporate knowledge of population genetics to calculate genetic risk based on carrier frequency within a population.
5. Explain and identify non-Mendelian mechanisms such as: reduced penetrance, variable expressivity, uniparental disomy, epigenetics, mosaicism, genomic imprinting and unstable repeat expansion.
6. Identify the clinical presentation and etiology of genetic disorders including: single gene disorders, disorders of chromosome abnormalities, inborn errors of metabolism, multifactorial genetic disorders and cancer genetics.
7. Identify the effects of teratogens and in utero infections and identify patterns of dysmorphology.
8. Interpret results of cytogenetic, molecular and biochemical genetic tests to aid in diagnosis of genetic diseases.
9. Assess and appraise the importance, usefulness and limitations of genetic tests including: cytogenetic testing, molecular testing, pre-natal testing, genome scanning, newborn screen and biochemical genetics testing. Determine which test(s) are most appropriate for a given clinical scenario.
10. Use knowledge of genetics and genetic evaluation of patients to determine treatment options for genetic disorders.
11. Explain the clinical, ethical and social implications of genetic diagnosis, family health, prediction, and personalized medicine.
12. Discriminate between appropriate and inappropriate ways of communicating genetic information. Identify those approaches that recognize the importance of patient autonomy and privacy issues. Demostrate respect for patients’ religious, ethnic and cultural beliefs in counseling situations.
Syllabus is posted in Blackboard
Karen Weissbecker, Ph.D
Director of Graduate Studies
Hayward Genetics Center
Office Number: 5556, Office Hours: by appointment
Office phone: 504-988-6242
Office fax: 504-988-1763
Email Address: email@example.com
1430 Tulane Ave, New Orleans, LA 70112 firstname.lastname@example.org