The Molecular Pathology Laboratory is one of the leading molecular diagnostic laboratories in Australasia.
We perform a wide range of diagnostic DNA genetic analyses for inherited disorders and are continually developing new tests for these disorders.
These diagnostic services are provided by experienced and highly qualified staff and constructive interpretation of results by a clinician is always available.
The research focus of the group originates from, and is under pinned by, its role in providing a molecular diagnosis for a host of diverse genetic and acquired diseases.
The group has made a major contribution to the understanding of molecular disease at the DNA, RNA, protein and whole organ level, and provided unique insights into the intracellular processing of proteins, and protein conformational disease.
- Effect of genetic mutations and post-translational modification on the structure and function of fibrinogen; mutations involving bleeding, thrombosis, liver cirrhosis, and renal amyloidosis.
- COS cell minigene constructs to explore deep intronic mutations as a cause of cerebral ischemia and the use of morpholino oligonucleotide analogues to patch the underlying genetic lesion.
- The Identification of novel PCSK 9 mutations in patients with high cholesterol, using recombinant expression to ascertain the effect of the mutation on intracellular processing and function.
- Amyloidosis; assessing the efficacy of surgical gene therapy (hepatic and hepatorenal transplantation) on the phenotype change and the progression of apo AI and fibrinogen amyloid; recombinant expression of amyloidogenic fibrinogen mutations.
- Expression of a novel lambda light chain, and “proof of concept” as an inhibitor of fibrinogen polymerization and potential as a novel anticoagulant.
- Development of a FISH assay for the detection of the factor VIII intron-22 inversion.
- Haemophilia: inhibitor development and the characterisation of the genes involved in the immune response to recombinant factor therapy.