Central Clinical School

Molecular Genetics – Royal Prince Alfred Hospital

• Molecular basis of genetic disease
• Thalassaemia and variant haemoglobins
• Cardiac amyloid (transthyretin amyloidosis)
• Familial Hypercholesterolemia (LDL Receptor and ApoB)
• Huntington disease diagnostic testing
• Haemochromatosis diagnostic testing
• SNP association studies in complex diseases
• Genes and cardiovascular performance

Clinical Genetics

• Familial Hypercholesterolemia Research
• Cardiac amyloid
• Haematological genetics
• Immunogenetics