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Genomics and Inherited Disease Program

Harnessing genomics to accelerate the diagnosis and treatment of inherited disease.

Program Directors

Changes in our genome, or DNA sequence, can be inherited from our parents, and influence our risk of nearly every disease. In some diseases, multiple changes across many genes act together with our environment to cause disease, while rare genetic diseases can be caused by a single change in a single gene.

Rare genetic diseases collectively affect about 8% of the global population, yet less than half of all people living with these diseases have received a genetic diagnosis. This information is critical for providing certainty to patients and their families and in many cases will directly influence treatment. In other cases, discovering a new genetic cause of disease can help diagnose unsolved cases around the world, and inform the development of new treatments.

Our Program is using the information encoded in our genome to better understand the genetic drivers of disease and use this knowledge to directly benefit patients and their families. Our team has specific strengths in diseases of the immune system, heart, eyes, kidney, and brain. We partner nationally and internationally with patients, clinicians, researchers, and industry.

Our vision is to utilise the latest in cutting-edge genomics, bioinformatics, and genomic counselling to directly benefit patients and their families and to solve the mystery of genetic diseases.