Implementation of a new, inexpensive and high-throughput Matrix Assisted Laser Desorption / Ionization _ Time Of Flight Mass Spectrometry test for superior detection of Fragile X Syndrome in targeted diagnostics and newborn population screening.

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1017263

Funding Status
Closed

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Funded Activity Summary

Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment intervention.

Funded Activity Details

Start Date: 01-01-2011

End Date: 01-01-2012

Funding Scheme: NHMRC Development Grants

Funding Amount: $254,175.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Developmental Genetics (incl. Sex Determination)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords