The Murdoch Children's Research Institute has welcomed the news that it is one of the three main partners in a $20-million genetic screening research study.

The Mackenzie's Mission project will screen about 10,000 couples to see if they are carriers of a genetic condition that could be passed on to a child.

The national research network Australian Genomics will administer the project in partnership with the Murdoch Children's Research Institute, the University of NSW and the University of Western Australia.

Mackenzie's Mission is the first project under the Federal Government's $500 million Genomics Health Futures Mission - part of the Australian Government's Medical Research Future Fund.

Ten thousand volunteer couples who are thinking of having a baby or are in the early stages of pregnancy will be screened for about 500 genetic conditions during the three-year study. Recruitment for those couples will begin towards the end of 2019 and will be done via referrals from doctors.

More than 45 people are steering the project led by Professor Martin Delatycki (Murdoch Children's Research Institute), Professor Edwin Kirk (UNSW) and Professor Nigel Laing (UWA). The team includes researchers from a variety of fields: clinicians, scientists, genetic counsellors and pathologists from across Australia.

"This is a pilot project that will inform, we hope, a larger program in the future where all Australian couples will have the option for screening if they want," Prof Delatycki said.

"The government are to be congratulated for being visionary in this world-first research program."

The project is named after Rachael and Jonathan Casella's daughter, Mackenzie, who died in 2017 from the severe genetic condition spinal muscular atrophy (SMA), when she was seven months old.

Neither Rachael nor Jonathan have the condition but both are carriers of SMA – something they only discovered after Mackenzie was born.

"After Mackenzie's diagnosis we knew we couldn't change our family's future but we could stop it from happening to other families," Rachael said.

"To have this carrier screening pilot project named after our daughter gives us such pride: to know she will live on through this legacy means everything to us."

Director of the Murdoch Children's Research Institute, Professor Kathryn North, said she was delighted by the announcement as it would build on much of the work already being done by MCRI and Australian Genomics.

"This is such an important project for the future health of our children, for the health of our society," said Professor North, who is also the Australian Genomics Lead.

"Prevention and early diagnosis are the keys to managing and treating medical conditions, and genomic testing enables us to do that. Genomics is transforming the way we approach health."


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Australian Genomics is an independent research collaboration launched in 2016 under an NHMRC grant to build evidence and inform policy for the integration of genomics into healthcare. We represent 80 organisations including hospitals, research institutes, universities, sequencing laboratories and community groups across Australia.