High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
Most eye diseases have a genetic contribution, whether rare disorders affecting children such as retinoblastoma or congenital cataracts through to common disorders of older people such as myopia, age-related macular degeneration or glaucoma. We will continue our successful research to find genes that cause these diseases and use this to improve patient care and prevent blindness. We will work out how families can use this genetic information to participate in trials to develop new treatments.
Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres ....Drinking from the fire hose - Making sense of high density genetic and genomic data. The project will improve our understanding of the genetic component of common complex diseases such as cancer. Identification of genetic variants underlying disease risk is currently one of the primary means for increasing our understanding of the biochemical and developmental pathways involved. Genetic studies rely on sophisticated statistical and computational (bioinformatics) techniques. This project centres on the development, refinement and application of novel statistical analysis methods in genetics. Future advances in statistical and computational methods are essential if we are to exploit the large volumes of genome data now being generated to help develop diagnostics and interventions to improve public health.Read moreRead less