Testing & treating newborns for spinal muscular atrophy: saving lives & healthcare costs

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.

New research from UNSW Sydney’s Centre for Big Data Research in Health shows that testing all Australian newborns for this disease, and using the gene therapy for early treatment, is still cheaper in the long run than our current treatment methods – and better yet, it will help save lives.

The study, funded by Luminesce Alliance, was published last week in the Journal of Neurology, Neurosurgery, and Psychiatry – and it has important implications for Australian policy development and implementation.

Read more about the work that was conducted by the lead author of the study Dr Sophy Shih, a health economist from UNSW Medicine & Health and co-author Associate Professor Michelle Farrar, a paediatric neurologist based at UNSW and Sydney Children’s Hospital, here.


Ground-breaking stem cell research projects – inherited retinal conditions

Luminesce Alliance is excited by the fact that our initial funding to establish the Stem Cell Medicine Group and the Stem Cell and Organoid Facility at the Children’s Medical Research Institute (CMRI) has continued to support the delivery of ground-breaking stem cell research projects.

Dr Anai Gonzalez Cordero a stem cell expert and Group Leader of the Stem Cell Medicine team and the manager for the Stem Cell & Organoid Facility at CMRI, has been awarded almost half a million dollars to develop stem cell derived-retinal organoids to test genetic therapies.

The majority of inherited retinal conditions leading to total blindness are due to loss of the light-sensing cells of the eye, the photoreceptor cells. Harnessing researcher expertise in human stem cell biology, genetics, ophthalmology and gene therapy to test efficacy of new therapies, research output aims to overcome the leading cause of blindness in the working-age population.

Anai will also work in collaboration with the Eye Genetic Unit, with Ian Alexander and Leszek Lisowski and with the group of Dr Carvalho in the University of Western Australia