Centre for Genetic Diseases

Centre Head

Research at the Centre for Genetic Diseases

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 in the egg and sperm and just after fertilisation, and are therefore known as inherited diseases. It was previously thought that these diseases were only caused by mutations to the genes (coding regions) we inherit 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 are 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.

In another program of research, we are investigating how mutations to the maternally inherited mitochondrial genome, which is separate to the chromosomal genome, and mitochondrial DNA copy number are transmitted from the mother and reset in her children. As many women suffer from failed fertilisation outcome due to their eggs having too few copies of mitochondrial DNA, we are developing specific assisted reproductive technologies to enhance fertilisation outcome by adding additional copies of mitochondrial DNA to their eggs. Furthermore, we are investigating how different mitochondrial DNA haplotypes influence phenotypes using stem cell and large animal models.

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 and give rise to some very severe metabolic disorders.

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.