Repeat expansions in neurological disease: discovery, interpretation and enhanced diagnostics

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/2001513

Funding Status
Status not available

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Funded Activity Summary

Identifying the mutation or genetic cause of disease in an individual is the first step in the provision of appropriate clinical care and treatment. This diagnostic process is being revolutionised through the ability to sequence the entire human genome in a time and cost effective manner. This project will enable identification of novel and known repeat expansion using whole genome sequencing, providing rapid diagnoses and better clinical care for individuals with neurogenetic disorders.

Funded Activity Details

Start Date: 01-01-2020

End Date: End date not available

Funding Scheme: Ideas Grants

Funding Amount: $889,937.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

diagnostic test | disease mechanisms | gene discovery | neurogenetics

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