Northern Clinical School

Community Genetics

• Community Genetics and Genetic Screening for genetic disorders
• Cost-benefit and cost-utility evaluation of carrier testing programs in the Australian community
• Evaluation of carrier testing programs in the Australian Community
• Molecular epidemiology of Tay-Sachs disease
• Genetic carrier rate of autosomal recessive diseases in the Australian Jewish Community, including Canavan disease, Fanconi anaemia, Familial dysautonomia, Niemann-Pick disease
• Comparison of genotype variations of the HEXA and HEXB genes with phenotypic expression of B-Hexosaminidase A and B proteins in Tay-Sachs disease
• Identification of mutations in the CFTR gene for cystic fibrosis
• Haemochromatosis (HFE) screening in the general community