Pathogenic repeat expansions in ataxia: advancing gene discovery and genetic diagnosis

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1194364

Funding Status
Active

Does something not look right? The information on this page has been harvested from data sources that may not be up to date. We continue to work with information providers to improve coverage and quality. To report an issue, use the .

Funded Activity Summary

Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.

Funded Activity Details

Start Date: 05-12-2019

End Date: End date not available

Funding Scheme: Investigator Grants

Funding Amount: $645,205.00

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

ataxia | bioinformatics | clinical diagnosis | genetic analysis

Related Links