BIOMG 6391 - Molecular Basis of Disease

Spring. 3 credits. Student option grading.

Prerequisite: BIOMG 3300, or BIOMG 3310 and BIOMG 3320, or BIOMG 3350 and BIOMG 2800. Co-meets with BIOMG 4390.

H. Kwak.

This course will examine how changes in the normal expression, structure, and activity of gene products caused by genetic mutations and environmental agents lead to disease in humans and other animals. The material will focus on how proteins with modified structures and biochemical activities cause alterations in normal cellular processes, as well as the physiological consequences of these changes. Topics will be selected from hormone insensitivity syndromes, gene fusions resulting in hybrid proteins, gene amplification, gene inactivation, disruption of signaling pathways, genetic variation in non-coding transcriptional regulatory elements, and the molecular actions of environmental poisons and toxins. The methods used to identify the underlying biochemical and genetic basis of diseases, as well as possible pharmaceutical and genetic therapies for treating the diseases, will be presented.

Outcome 1: List examples of monogenic and polygenic diseases and describe how these relate to human genetic variation.

Outcome 2: List the genetic drivers of cancer and discuss the mechanisms by which these genes affect cell growth pathways.

Outcome 3: Describe the ways that non-coding genetic changes or environmental gene regulatory changes affect cellular function.

Outcome 4: Describe how the immune system contributes to diseases.

Outcome 5: Formulate experimental strategies to identify the genetic basis of an uncharacterized disease.

Outcome 6: Describe the involvement of specific organ systems in cancer and other disorders.