Luminesce Alliance along with its partner, Sydney Children’s Hospitals Network (SCHN), is focused on bridging the gap between the ability to diagnose and the ability to treat rare genetic conditions – and the results are life changing.

Rare genetic diseases, although individually uncommon, affect about five percent of the population and for the majority there is no cure. But breakthroughs in genomic research have proven to be effective for previously untreatable diseases, transforming the lives of children with rare genetic and acquired disorders.

Researchers at SCHN, with their partners, have already made major contributions to the international effort to drive genome therapeutics. Key achievements include the global SPR1NT trial, which investigated the use of Zolgensma® to treat Spinal Muscular Atrophy with funding from Luminesce Alliance, as well as the Australian-first delivery of ocular gene replacement therapy.

The establishment of the nation’s first viral vector manufacturing facility at Westmead Precinct has also enabled the Network to drive advancements in gene transfer technology. The facility will manufacture GMP grade AAV and lentiviral vectors. This is a vital component for gene transfer (carrying the new genetic information into the cells to correct the functional defect at its source) and genome editing and a major piece of the puzzle in solving genetic diseases in the future.

Find out more about this innovative work at the prestigious International Congress of Inborn Errors of Metabolism.