Centre for Genetic Diseases

Centre Head

Research at the Centre for Genetic Diseases

Research within the Centre for Genetic Diseases is focused on understanding the genetic and epigenetic causes of disease. Scientists in the centre use a range of innovative reproductive, developmental biology and stem cell models, and utilise the most up-to-date analytical approaches.

Many diseases that affect people during their lifetime originate from changes present in the egg and sperm and just after fertilisation. These are 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. Research in the centre is providing explanations for how these previously inexplicable diseases are transmitted from one generation to the next.

Scientists in the centre are investigating how very early epigenetic marks in sperm and eggs are modulated during development and regulate gene expression in our children. They are also working to determine how disruptions affect subsequent generations, leading to diseases such as diabetes and cancer.

In another program of research, scientists 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 experience failed fertilisation due to their eggs having too few copies of mitochondrial DNA, the centre is developing specific assisted reproductive technologies to enhance fertilisation outcome by adding additional copies of mitochondrial DNA to their eggs. Furthermore, the centre is investigating how different mitochondrial DNA haplotypes influence phenotypes using stem cell and large animal models.

Additionally, scientists 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. They 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, the centre’s work will influence clinical practice and provide a platform for the development of tomorrow’s therapies.