Genetic Diseases and the study that’s helping to identify them

30 September 2021

Guests at O’Sullivan Davies Presents on Thursday evening were rewarded with an insight into cutting-edge science in genetic screening and sequencing developed at the Harry Perkins Institute in Western Australia.

The presentation by Doctor Gina Ravenscroft, NHMRC Career Development Fellow and Group Leader of the Rare Disease Genetics & Functional Genomics Group and Professor Nigel Laing AO, NHMRC Principal Research Fellow and Group Leader of the Preventative Genetics Group, showcased the advancements made in the past ten years.

In Australia, 330,000 babies are born every year and 34% of deaths of children are from malformations or genetic diseases, 51% of deaths before one year of age.

It’s heart-breaking for parents to lose a child or be told that their child has a recessive genetic disorder that can’t be cured.

Without a genetic diagnosis, families are living in the dark, not knowing what is happening to their child. There are hundreds of variants that cause genetic disorders and the duo work collaboratively with other geneticists around the world including in USA, Finland, Turkey and Japan to help find answers for families.

The work Dr Ravenscroft, Prof Laing and the Harry Perkins Institute are doing is helping families by providing accurate diagnoses of children and by testing parents so they can identify if they are carriers of genes that could cause genetic diseases in future children.

In WA we have the biggest family in the world of motoneuron disease which stems back to the 1800s when a male carrier immigrated to WA and went on to have three wives and 17 children, almost half of whom were carriers.

In the world’s biggest trial of preconception carrier screening, Mackenzie’s Mission, the Harry Perkins Groups are participating in testing 10,000 couples in remote, regional and metro Australia to screen for 1,300 genes that relate to 750 severe recessive genetic disorders. Results show that close to 1 in 50 couples are at risk of passing on one of the genetic diseases to their future children.

The objective of the study is to show policy makers the benefits of providing Australians with access to free carrier screening during preconception planning, and we all hope that this becomes a reality soon.

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Dr Gina Ravenscroft is an NHMRC Career Development Fellow and Group Leader of the Rare Disease Genetics & Functional Genomics Group at the Harry Perkins Institute of Medical Research. Dr Ravenscroft’s research interest is on the genetics of severe diseases that present before or at birth. She has published 15 novel human disease genes, with others in the pipeline. She was voted Young Myologist of the Year (the best Early and Mid-Career Researcher in the world) by the World Muscle Society in 2016. She is a committed advocate for women in STEM and current President of the National Association of Research Fellows

Prof Nigel Laing AO is an NHMRC Principal Research Fellow and Group Leader of the Preventative Genetics Group at the Harry Perkins. He is one of three leads of a $20 million grant from the Medical Research Future Fund, “Mackenzie’s Mission”, which is exploring how to make reproductive genetic carrier screening free to any Australian couple that want to use it. He has been identifying human disease genes since the 1980s with one disease, Laing distal myopathy, named after him. Prof Laing is Scientific Advisor to the Department of Diagnostic Genomics, PathWest; the national referral centre for neurogenetic disease diagnostics.