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

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1103389

Funding Status
Closed

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Funded Activity Summary

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.

Funded Activity Details

Start Date: 01-01-2016

End Date: 01-01-2018

Funding Scheme: Project Grants

Funding Amount: $769,866.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Genetics not elsewhere classified

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

Fragile X syndrome | developmental syndromes | epigenetics | medical genetics | population screening

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