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