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.

Research Grant

[Cite as https://purl.org/au-research/grants/nhmrc/1017263]

Researchers: A/Pr Howard Slater (Principal investigator) , Dr David Godler

Brief description 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.

Funding Amount $AUD 254,175.96

Funding Scheme NHMRC Development Grants

Notes Development Grant

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nhmrc : 1017263
PURL : https://purl.org/au-research/grants/nhmrc/1017263

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. [ 2011 - 2012 ]

Research Grant

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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. [ 2011 - 2012 ]

Research Grant

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