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Uncategorised August 5, 2021

The WA study known as Mackenzie’s Mission, co-led by Harry Perkins Institute of Medical Research geneticist Professor Nigel Laing AO, is leading the way in a national $20 million genetic screening study testing selected couples for genetic mutations that cause severe diseases.

The study aims to test over 1300 WA couples for severe recessive diseases, including many that lead to death before the age of four.

WA is the first state to screen more than 50 percent of its target. Already 835 WA couples from across the State have taken the opportunity to be screened for more than 750 severe genetic diseases.

“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.

“We’ve seen the reactions of families just so grateful that their disease gene has been found,” he said. It has enabled couples to have unaffected children.

Pathwest is conducting the screening for couples in WA, SA and Queensland and is currently screening on average 50 couples per week.

Over 900 reports have been issued to couples since January 2020.

Rare diseases and malformations cause 51 percent of deaths in the first year of life. However, 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.

The study will be running until March 2022.

Couples from metro, regional and remote WA who would like to be involved are encouraged to ask their doctor about the program or contact the study at [email protected]

The study is funded by the Federal Government’s Medical Research Future Fund through Australian Genomics.

Rachael and Jonathan Casella, with daughter Mackenzie who died of spinal muscular atrophy (SMA) – a severe inherited neuromuscular condition without a cure. The couple successfully lobbied for a national carrier screening study.

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