Clinical Genetics (GENC5001)


This unit of study focuses on the scientific basis of human genetic inheritance and of human genetic disorders and provides a broad overview of the genetics of common single-gene human genetic disorders and the genomics of common multi-gene human genetic disorders. A review of Mendelian inheritance, principles of biochemical genetics, current knowledge of the molecular basis of human inheritance and risk assessment will be presented using case examples. More complex patterns of inheritance including mitochondrial and uniparental disomy as well as epigenetic mechanisms will be explored. The unit will include lab based field work covering genetic testing used in diagnostic and screening contexts including molecular, cytogenetics and molecular cytogenetics.

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12 x 1.5h lectures integrated with 10 x 3/4h Problem Based Learning sessions (shared with GENC5002) SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards; 3 x 2h pathology lab visits - Children's Hospital Westmead.


Family history intake and pedigree construction (25%), written assignment 1500wd (25%), 1.5hr exam (50%)


Read A and Donnai D. New Clinical Genetics. 2nd Edition 2011

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