The successful implementation of the first state-wide newborn screening (NBS) program for spinal muscular atrophy (SMA) in Australia has been published in Genetics in Medicine, the journal for American College of Medical Genetics and Genomics.

SMA is the leading genetic cause of infant death in Australia, with the disease occurring in one in every 10,000 births. SMA affects motor nerve cells in the spinal cord, causing progressive muscle weakness through to adulthood.

The NBS pilot funded for 2 years by the NSW Government through Luminesce Alliance first started back in August 2018 and has since screened over 100,000 babies and demonstrated that NBS is effective for the early identification and treatment of SMA. A new collaboration between the NSW/ACT Newborn Screening Programme and Sydney Children’s Hospitals Network Neurology Department, the pilot program is led by Associate Professor Veronica Wiley and Associate Professor Michelle Farrar

“We have shifted in a few short years, from considering SMA as a progressive disease to one where we have gone beyond just thinking in terms of survivability to the realm of improving function and reducing the associated burden of disease – Associate Professor Michelle Farrar”

Read the full study here: The implementation of newborn screening for spinal muscular atrophy: the Australian experience