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Diagnostics


Epigenetic Biomarkers for Fragile X Syndrome

 

New epigenetic biomarkers for FMR1-related disorders including Fragile X Syndrome. A diagnostic assay has been developed that offers significant advantages over existing tests, including reduced cost, decreased reliance upon large quantities of high quality DNA, and enhanced informative outcomes. The assay is based upon the epigenetic profiles of novel genetic regions called Fragile X-related Epigenetic Elements (FREE), and aims to facilitate wide-scale screening of fragile X syndromes by significantly reducing the burden of Southern blot analysis. 

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Genetic Biomarker and Microarray for Hearing Loss Diagnosis

 

A novel genetic biomarker that can be added to the panel of existing gene mutations known to be commonly associated with hearing loss, to significantly reduce the rate of inconclusive test results, and potentially open new options for prevention, management and treatment of deafness. The package also includes an optimized microarray assay which allows highly sensitive, multiplex analysis of several mutations in genes associated with hearing loss.

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Genetic Biomarker of Drug Response : Proteasome Inhibitor Therapy for Multiple Myeloma

 

A genetic biomarker has been identified by researchers at the Centenary Institute to pedict drug response in cancer patients treated with proteasome inhibitors such as Velcade. 

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Genetic Test to Distinguish Frontotemporal Dementia (FTD) from Alzheimer's Disease (AD)

The NIH estimates that up to 45% of patients diagnosed with AD actually suffer from another form of dementia. A genetic test has been developed to differentiate FTD from AD which may be particularly useful at an early stage in disease pathogenesis when therapeutic intervention can be most effective.

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Genetic Biomarkers of Drug Response : Carbamazepine and Valproate Treatment for Epilepsy

Genetic biomarkers have been identifed and characterised to predict the response of epilepsy patients to Carbamazepine and Valproate, supported by clinical data from prospective studies conducted on naive cohorts.

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FallScreen: A Comprehensive Kit for Falls Risk Assessment and Prevention

A team at Neuroscience Research Australia has developed a clinically proven system for the assessment of postural stability and sensorimotor abilities. The test may be of interest to companies seeking to market a validated falls risk assessment product or service.

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