Identifying novel gene mutations for molecular diagnosis of Familial Hemiplegic Migraine

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/GNT1122387

Funding Status
Closed

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Funded Activity Summary

This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.

Funded Activity Details

Start Date: 01-01-2017

End Date: 01-01-2019

Funding Scheme: Project Grants

Funding Amount: $623,460.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurogenetics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

migraine | molecular genetics | pedigree analysis | population genetics | sequencing

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