Applied Clinical Genetics (GENC5002)


Applied clinical genetics will be co-presented and integrated with the Unit of Study: Clinical genetics. Students will be introduced to the management of clinical and genetic information and databases. Molecular genetic theory will underpin the understanding of the basis of genetic, syndromes of paediatric and adult onset, neurogenetics and connective tissue genetics. 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. This unit also provides practical training in risk assessment and probability of outcomes that are important in genetic counselling for families with chromosomal rearrangements including cryptic anomalies, Mendelian disorders and polygenic disorders. Sources for a priori and empiric estimates of risk and Bayesian approaches to final risk perception will be taught.

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12 x 1.5 h lectures integrated with 10 x 3/4 h Problem Based Learning sessions (shared with GENC5001) - SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards; 1 x 2h pathology lab visits - Children's Hospital Westmead.


Intake assessment (25%), written assignment 1500wd (25%), 1.5 hr exam (50%)


Read A, Donnai D. (2011) New Clinical Genetics. 2nd Edition Scion Publishing Harper, P.S. (2010) Practical Genetic Counselling (7th revised Edition), Butterworth and Heinemann Peat, Jennifer; Elliott, Elizabeth; Baur, Louise; Keena, Victoria Scientific W

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