Luminesce Alliance - Newborn Screening Program Pilot for Spinal Muscular Atrophy and Primary Immunodeficiency in NSW & ACT Image

Newborn Screening Program Pilot for Spinal Muscular Atrophy and Primary Immunodeficiency in NSW & ACT

Spinal Muscular Atrophy (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.

A Newborn Screening Pilot (NBS) pilot commencing  August 2018 and funded for two years by the NSW Government through Luminesce Alliance, has since screened over 100,000 babies and demonstrated that NBS is effective for the early identification and treatment of SMA.

The pilot is a new collaboration between the NSW/ACT NBS and Sydney Children’s Hospitals Network Neurology Department.