University of Kansas Medical Center
Medical Biochemistry
Molecular and Human Genetics
Medical genetics is one of the most rapidly advancing fields of medicine and is now integral to all aspects of biomedical science. Every physician who practices in the 21st century will require a basic knowledge of the principles of human genetics and their application to a wide variety of clinical problems. The American Society of Human Genetics (ASHG) has developed a Medical School Core Curriculum to provide guidance to deans and curriculum committees regarding knowledge, skills, and attitudes related to medical genetics that are likely to be needed by all current medical students during their careers as physicians (1).
The practice of modern medicine includes recognition of the role of genetic factors in health and disease. This requires knowledge of the structure, function, and transmission of genes and understanding of interactions both among genes, and between genes and the environment (1).
The Department of Biochemistry and Molecular Biology has the responsibility for teaching a major part of the medical genetics curriculum at the University of Kansas Medical Center. The following outline lists the objectives of the course material in medical and human genetics.
Students in Medical Biochemistry at KUMC should know and understand:
1. What genes are and how they are organized.
2. How genes are arranged in chromosomes and how chromosomes replicate.
3. How genes are transmitted from parent to child, how genes segregate, and the
patterns of inheritance for dominant and recessive, autosomal and X-linked traits.
4. The nature of mutations and how they are repaired, and how they contribute to human variability and disease.
5. What genes do: the flow of genetic information from DNA to RNA to protein.
6. How gene expression is controlled.
7. How genes can be experimentally isolated and manipulated.
8. How polymorphisms, gene linkage, and human gene mapping are used in medicine.
9. The significance of the Human Genome Project to medicine.
10. How evolutionary principles can be used to understand human biology and disease.
11. The basic principles of inborn errors of metabolism and pharmacogenetic variations, and the molecular basis of inherited disease.
12. The role of genetics in the pathogenesis of neoplasms and in the predisposition to malignancies.
13. The multifactorial nature of most human traits and the principles of multifactorial inheritance.
14. The clinical manifestations of the common chromosomal anomalies.
15. The concepts and clinical importance of genetic imprinting and uniparental disomy.
16. Common molecular and cytogenetic diagnostic techniques and how they are applied to genetic disorders.
17. Approaches to treatment of genetic diseases.
18. Effective use of information systems, including library and Internet database resources, and how to communicate genetic information.
Last updated: 6/6/01
Molecular and
Human Genetics
Learning Objectives for Medical and Human Genetics
Lectures - Fall 2005
Lectures - Spring 2004
Internet Research Assignment
Health Careers Pathways Pre-Matriculation Program