Medical Genetics

About Medical Genetics

The Discipline of Medical Genetics is in the School of Biomedical Sciences within the Faculty of Health. The Discipline is involved in undergraduate and postgraduate education in all aspects of genetics from basic Mendelian Genetics through to Complex Bioinformatics. The Discipline's major research theme is information-based medicine, with research programs in cancer, multiple sclerosis, schizophrenia, neuroscience, melanoma and epigenetics.

Research

Understanding the genetic basis of disease is the overarching theme of the Medical Genetics Research Group. The primary interests of the group lead by Professor Scott are related to genetic variation and its relationship to disease. Most extensively studied malignancies include colorectal cancer, breast and ovarian cancer and melanoma. Currently our interests are focusing on gene expression profiles that can be related sub-classes of disease. For example, we have identified a typical expression profile for a particular pre-malignant lesion (colorectal FAP polyp) in a rare colorectal cancer predisposition (known as familial adenomatous polyposis) and compared it to another lesion taken from a patient who displayed similar disease symptoms but also was diagnosed with breast cancer BrBo. This indicates the two gene expression patterns are different suggesting that the etiology of the pre-malignant lesion from the patient with a breast cancer is very different to that of the two cases who had been diagnosed with familial adenomatous polyposis.

The identification of gene expression profiles that are specific to similar yet mechanistically different diseases will result in the development of targeted therapies that will allow for the introduction of personalised medicine.