A new born baby from Sydney is the first outside of North America to get a lifesaving gene replacement treatment, thanks to a new screening program.

The little girl was born with Spinal Muscular Atrophy (SMA), which is the leading genetic cause of infant death in Australia.  Health Minister Brad Hazzard said the diagnosis came because of the new screening program which is offered to all babies born in NSW and the ACT.

"This is a tragic condition - in some cases, babies are born so weak they only survive a few weeks.  This trial will potentially give those babies a much greater chance at life," said Mr. Hazzard.  "Within a month of introducing SMA to the newborn bloodspot screening program, a baby girl was diagnosed before any symptoms had begun and she is now getting lifesaving gene-replacement therapy."

The screening is done with a routine heel prick that now includes Primary Immunodeficencies (PID).  That's a range of serious disorders that weaken the immune system that occur in 1 in 40,000 births and are usually fatal in a baby’s first year of life.

The additional screening over two years is being funded by the NSW Government through Paediatrio, the NSW paediatric research collaboration between Sydney Children’s Hospitals Network, Children's Medical Research Institute, and Children's Cancer Institute.