Fifteen projects have received funding from the Australian Government's Medical Research Future Fund.
Testing in the newborn period is more effective than conventional clinical diagnosis pathways for improving health outcomes in infants with the rare genetic disease.
Spinal muscular atrophy and cystic fibrosis are among the rare diseases being explored by UNSW Medicine & Health researchers.
Gene therapy for spinal muscular atrophy might have a high up-front price tag. But by screening and treating infants early, the therapy can save both lives and money in the long term.