Applied clinical genetics will be co-presented and integrated with the Unit of Study (UOS):GENC5002 Clinical genetics. Students will be introduced to the management of clinical and genomic information and databases. Essential tools of genetic counselling including family history taking and pedigree construction will be introduced early and will be applied throughout the semester in the context offamily case studies which will illustrate the psychosocial impact of a genetic diagnosis. Molecular genetic theory will underpin the understanding of the basis of genetic, syndromes of paediatric and adult onset conditions, intellectual disability, neurogenetic and connective tissue disorders. Application to screening and diagnosis of genetic conditions in the prenatal, paediatric and adult contexts, and current treatment therapies and preventive strategies will be presented. Public Health genetics, genetic epidemiology and population screening will be studied as important aspects of community genetics.
15x1.5h 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 GENC5001) SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards and intensive block of four days and one day at the Westmead Children's Hospital genetics laboratory services (cytogenetic, molecular cytogenetic, molecular, biochemical)- weeks 2 and 9 respectively.
Intake assessment (25%), written assignment 1500wd (25%), 1.5 hr 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.
GENC5001 and GENC5003 are co-requisites.