grant

Identification of glaucoma susceptibility variants by exome sequencing in extended pedigrees showing prior evidence of gene segregation. [ 2013 - 2016 ]

Also known as: Finding glaucoma genes by sequencing large families known to carry susceptibility variants

Funded by National Health and Medical Research Council
Managed by Antarctic Climate and Ecosystems CRC, University of Tasmania
Managed by Institute of Antarctic and Southern Ocean Studies, University of Tasmania
Managed by School of Physical Sciences, University of Tasmania
Managed by University of Tasmania
Provided by   National Health and Medical Research Council

Research Grant

[Cite as http://purl.org/au-research/grants/nhmrc/1044996]

Researchers: Dr Jac Charlesworth (Principal investigator) ,  A/Pr Kathryn Burdon ,  Prof David Mackey ,  Prof John Blangero

Brief description 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.

Funding Amount $AUD 694,002.43

Funding Scheme Project Grants

Notes Standard Project Grant

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Subjects
Biological Sciences | Genetics | Quantitative Genetics (Incl. Disease and Trait Mapping Genetics) | association | bioinformatics | functional genomics | genomics | glaucoma | linkage | pedigree analysis | primary open angle glaucoma | sequencing |
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