Updated: Jun 22
14/06/21 - WA is leading the way in a national $20 million genetic screening study testing selected couples for genetic mutations that cause severe diseases.
The study known as Mackenzie’s Mission, co-led by Harry Perkins Institute of Medical Research geneticist Professor Nigel Laing AO, aims to test 1300 WA couples as part of a national total of 10,000 couples.
Already nearly 650 WA couples have taken the opportunity to be screened for more than 750 severe recessive diseases, including many that lead to death before age 4.
“I’ve been surprised by the spread of different disease genes we have found putting couples at risk of having an affected child. It’s remarkable,” Professor Laing said.
“So far, nearly 40 different diseases have been identified across the country. It’s not just the big three, cystic fibrosis, fragile X and spinal muscular atrophy, but all sorts of other things that we would never really have expected to find.”
Nearly 90 per cent of couples at risk of having babies with severe genetic conditions have no family history of the disorders, no idea they are carriers, or that they are at risk of having an affected baby.
“We’ve seen the reactions of families just so grateful that their disease gene has been found,” he said. It is enabling couples to have unaffected children.
The study is funded by the Federal Government’s Medical Research Future Fund through Australian Genomics.
Before Mackenzie’s Mission, Western Australia ran a pilot study involving Professor Laing’s team, PathWest, the WA Department of Health’s Genetic Services WA and the Busselton Population Medical Research Institute. It provided crucial information to Mackenzie’s Mission.
“The results of both studies exemplify the benefits of the close working relationships between the Harry Perkins Institute’s genetics team, PathWest and Genetic Services WA” said Professor Laing.
About the Harry Perkins Institute of Medical Research
The Harry Perkins Institute of Medical Research is one Australia’s leading medical research institutes investigating diseases affecting the community. With over 250 researchers located on three hospital campuses in Perth, the Perkins is uniquely positioned to fast track the development of new discoveries and treatments. It’s wholly owned clinical trials facility, Linear Clinical Research, provides international and local pharmaceutical and biotechnology companies the facilities to trial latest drugs and treatments in healthy volunteers and patients. The Harry Perkins Institute of Medical Research is proudly West Australian, providing career opportunities to our best and brightest graduates and bringing to the State international scientists. As a registered charity, the Harry Perkins Institute relies on grants and donations to fund its medical research.