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 will be presented using case examples. More complex patterns of inheritance including mitochondrial and uniparental disomy as well as epigenetic mechanisms will be explored. An exploration of the biological and molecular basis of cancer syndromes is used as an example of complex genetic conditions. The unit will include hospital-based field work covering genetic testing used in diagnostic and screening contexts including molecular, cytogenetics and molecular cytogenetics.
13x1.5h lectures by faculty or guest lecturers (including 4 day intensive block)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 15x1.5h Problem Based Learning (PBL) sessions (shared with GENC5002) at SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards and intensive block of four days and one day at The Children's Hospital Westmead genetics laboratory services (cytogenetic, molecular cytogenetic, molecular, biochemical) in weeks 2 and 9 respectively.
Pedigree assignment (15%), cancer pedigree assessment (15%), quiz questions Read and Doonai (20%), 1.5hr exam (50%)
Read A, Donnai D. New Clinical Genetics. 3rd Edition 2015 Scion Publishing ISBN 978 1 907904 67 7; Nussbaum R, McInnes R and Willard H. Thompson and Thompson Genetic in Medicine. 8th Edition 2016 Elsevier ISBN 978 1 437706 96 3; Schneider KA (2012) Counselling about cancer. 3rd edition. Wiley Blackwell; Harper, P.S. (2010) Practical Genetic Counselling (7th revised Edition), Butterworth and Heinemann.
GENC5002 and GENC5003 are co-requisites