Human Molecular Genetics Laboratory - Honours in 2009

An Honours project undertaken in this lab would be administered by the Discipline of Anatomy & Histology.

Human molecular genetics of cancer and atherosclerosis

Supervisor + contact details:

• Professor Juergen Reichardt

As human molecular biologists and geneticists we wish to understand how the human genome in conjunction with the environment produces the multitude of human phenotypes, especially complex diseases such as cancer. We are particularly interested in the contribution of human genetics. We also have an interest in understanding the genetics of human metabolism and genetic variation thereof. This laboratory has a longstanding tradition of characterizing human galactose-metabolic enzymes and associated diseases.

We are currently also investigating two complex disease phenotypes with significant public health impact: various cancers and heart disease. Our strategy is to dissect these diseases through a step-wise, "candidate gene" approach. Our systematic choice of candidate genes for these diseases was dictated by the hypothesized involvement of particular metabolic pathways in pathogenesis.

In prostate cancer we are currently investigating various androgen metabolic genes since androgens have been reported to regulate cell division in the prostate. We have focused on the steroid 5Ą- reductase type II (SRD5A2) locus and are currently exploring also the AKR1C2, CYP3A4, HSD3B2, HSD17B3 and SRD5A1 genes.

Investigations into glioblastoma, melanoma and atherosclerosis are also under way.

References:

• Reichardt JKV (2007) Quo vadis, genoma? A Call to Pipettes for Biochemists, Trends Biochem. Sci. 32, 529-530
• Makridakis, NM, Phipps, T and Reichardt, JKV (2008) Genomic Analysis of Cancer Tissue Reveals that Somatic Mutations Commonly Occur in a Specific Motif, Hum. Mut. (in press)