Genomics Rare Disorders

Incredible advances in our understanding of the human genome mean we are now at the frontier of diagnosing and treating many genetic rare disorders. Staff are often in the unique position of working directly with families affected by sometimes devastating conditions.  Through this clinical interface, we are able to offer better diagnosis, prognosis and novel treatment options as a result of our genetic research. 

Once the genetic basis of a disease is understood, gene therapy can open up potential pathways employing cutting-edge technology to manage, treat, cure and even prevent rare genetic disorders if detected early enough.  Sydney Children's Hospitals Network is at the forefront of genetic medicine, manufacturing clinical-grade vectors on-site at Kids Research at the Gene and Cell Medicine Facility.