Genomics

Garvan Institute of Medical Research

The Garvan Institute of Medical Research’s genomics and epigenetics research aims to understand genome biology and its impact on disease. Genomics is the study of information that is encoded within the full DNA sequence complement of an organism. Epigenetics is the study of how DNA is organised and regulated in the cell to promote a stably heritable phenotype without alterations in the DNA sequence.

The study of epigenomics involves genome-wide mapping of DNA methylation, histone modifications, nucleosome positioning and three-dimensional architecture and the integration of this information with RNA expression to understand the complexity of cell biology and development. Visualisation of these complex data sets is key for interpretation and deciphering the underlying biology associated with genetic and epigenetic variation.

The Garvan Institute of Medical Research’s vision in this area is to interpret the information encoded within the genome and elucidate how the pattern of spatial and temporal epigenetic and resulting transcriptional processes control human development; how disruption of these processes contributes to cancer and other diseases, including diabetes and neurological and immunological disorders; and to translate this knowledge to improve health outcomes through development of biomarkers and potential therapeutic targets. We aim to foster a supportive research environment in which scientists unlock a deeper understanding of the biology of the genome that informs the development of new treatments.

Victor Chang Cardiac Research Institute

The Victor Chang Cardiac Research Institute has an active research program to investigate the genetic causes of congenital and adult-onset heart diseases. We are studying children with congenital heart disease and their parents, as well as families with adult on-set heart muscle disease and/or heart rhythm abnormalities. In collaboration with the Kinghorn Centre for Clinical Genomics, we have initiated the National Cardiogenomics Project. For the first time, we will be able to use whole-genome sequencing to look at each person’s entire genetic make-up. We hope this will help us pinpoint the variants that are disease-causing. A key objective of the National Cardiogenomics Project is to develop whole-genome sequencing as a new genetic test for patients with heart disease.

Our research work will:

• Enable sequencing of all the DNA of babies with congenital heart disease, and adult patients with dilated cardiomyopathy and/or atrial fibrillation plus their immediate family members
• Help to identify people at risk of acquiring heart disease
• Help to identify and understand how gene variants cause disease
• Enable [those] genetically tested families to obtain genetic counselling to understand the likelihood of having another child with a heart defect
• Provide valuable information about how to treat and diagnose genetic heart diseases