Description:
| Aims: To describe how a defect at the level of the gene results in an observed disease phenotype. To show how such patients can be treated with modern molecular medicine.
Learning Outcomes: After taking this course the student should be able to:
* explain the common themes of genetic disorders, and how they relate to the overall phenotype;
* explain the principles of tools involved in diagnosis and treatment of the disorders.
Skills: Learning and studying T/F/A, Written communication T/F/A, Oral communication T/F/A, Information handling & retrieval T/F/A, Working independently T/F/A.
Content: Diseases: diabetes, glycogen storage diseases, hyperbilirubinaemia, familial hypercholesterolaemia, fibroblast growth factor receptors and skeletal dysplasia.
Diagnosis and treatment: PCR/cloning, antibody engineering, gene therapy, gene targeting in the mouse, mouse models for human disease.
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