Centre for Genetic Diseases

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Sperm leaving testisCentre for Genetic Diseases

Centre Head: Professor Justin St. John

Research at the Centre for Genetic Diseases focuses on understanding the genetic and epigenetic causes of disease. We undertake our research using a range of innovative reproductive, developmental biology and stem cell models, and utilise the most up-to-date analytical approaches.

Many of the diseases that affect us today originate from changes present at and just after fertilization, and are therefore known as inherited diseases. It was thought that these diseases were caused by mutations to the genes we inherited from our parents. However, it is becomingly increasingly evident that many diseases arise from changes to other (non-coding) regions of DNA and to epigenetic regulators, which are factors that determine if and when a gene is expressed. These areas of research are providing explanations for how a large number of diseases, for which there was previously no answer, is transmitted from one generation to the next.

In our Centre, we have a major interest in determining how changes in copy number of a gene lead to disease, and identifying how non-coding regions regulate gene expression. We are also investigating how very early epigenetic marks in sperm and eggs are modulated during development and regulate gene expression in our children. We also determine how they affect subsequent generations when they are disrupted and lead to diseases such as diabetes and cancer.

We are investigating how mutations to the maternally inherited mitochondrial genome, which is separate to the chromosomal genome, are transmitted from the mother to her children. We are also developing specific assisted reproductive technologies to prevent the transmission of mutant mitochondrial DNA from one generation to the next. Additionally, we are determining how the complexes of the mitochondrial electron transfer chain are assembled and how mutations to its nuclear and mitochondrial DNA genes affect this process. We are also determining how mutations to other mitochondrial-energy generating pathways affect cellular function.

By understanding the underlying genetic and epigenetic mechanisms of disease, our work will provide a platform for the development of tomorrow’s therapies and influence clinical practice.

Research Groups:

Head: Research Group:
Prof Justin St. John Mitochondrial Genetics
Dr Matthew McKenzie Molecular Basis of Mitochondrial Disease
Dr Patrick Western Germ Cell Development and Epigenetics