Novel Fragile X Syndrome prevalence estimates in 100,000 Australian newborns, prognostic and health-economic outcomes: a retrospective newborn screening study [ 2016 - 2018 ]

Research Grant

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Researchers: Dr David Godler (Principal investigator) ,  A/Pr Howard Slater A/Pr Lesley Bretherton A/Pr Richard Norman Dr Michael Field
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Brief description Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.

Funding Amount $AUD 791,624.55

Funding Scheme Project Grants

Notes Standard Project Grant

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