The use of next generation sequencing to diagnose neurogenetic disease

Funding Activity

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Funded Activity Summary

For two groups of neurogenetic disease, leukodystrophy and polymicrogyria, the underlying genetic cause is not known for at least 50% of cases. In these cases, patients and their families do not have access to accurate genetic counselling, prognostic information or targeted therapeutics. This study will use new genetic technologies to identify the specific genetic causes underlying these diseases. These results will improve patient care and our understanding of the disease mechanisms.

Funded Activity Details

Start Date: 01-01-2017

End Date: 01-01-2018

Funding Scheme: Postgraduate Scholarships

Funding Amount: $55,689.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Medical Genetics (excl. Cancer Genetics)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

diagnostic imaging | disease aetiology | gene discovery | neurodegenerative disorders | neurogenetics