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. Sources for a priori and empiric estimates of risk and Bayesian approaches to final risk perception will be taught.

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12x1.5h lectures by faculty or guest lecturers with a case study from the Text Book Read A and Donnai D as the paradigm for the week (for both GENC5001 and GENC5002) integrated with 9x3/4h Problem Based Learning (PBL) sessions (shared with GENC5002) SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards; 3x2h sessions at the Children's Hospital Westmead genetics laboratory services (cytogenetic, molecular cytogenetic, molecular, biochemical)-two sessions each in weeks 3 and 7.


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


Peat, Jennifer; Elliott, Elizabeth; Baur, Louise; Keena, Victoria Scientific Writing : Easy When You Know How. London, BMJ Books, 2002.

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If you wish to undertake one or more units of study (subjects) for your own interest but not towards a degree, you may enrol in single units as a non-award student.

Cross-institutional study

If you are from another Australian tertiary institution you may be permitted to underake cross-institutional study in one or more units of study at the University of Sydney.