Identification of glaucoma susceptibility variants by exome sequencing in extended pedigrees showing prior evidence of gene segregation.

Funding Activity

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Funded Activity Summary

Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.

Funded Activity Details

Start Date: 01-01-2013

End Date: 01-01-2016

Funding Scheme: Project Grants

Funding Amount: $694,002.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Quantitative Genetics (incl. Disease and Trait Mapping Genetics)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

association | bioinformatics | functional genomics | genomics | glaucoma | linkage | pedigree analysis | primary open angle glaucoma | sequencing