Ocular Genetics

Linkage analysis

Three of the larger families collected as part of the Genes in Myopia (GEM) study were genotyped the largest containing 35 people with 18 affected with myopia. Linkage analysis followed by fine mapping has allowed us to narrow the myopia gene containing region to 0.8cM (~ 800,000 base pairs) on chromosome 2 in these families. Three SNPs associated with myopia were identified under a linkage peak on chromosome 2.

Quantitative trait linkage analysis (QTL) in twins

Genome wide association study (GWAS) using SNP chips to identify QTL genes in our twin cohort.

SNP analysis of other candidate genes

Association of SNPs in 2 candidate genes were undertaken in our myopia case control cohort. We identified two SNPs in one candidate gene that were associated with low/ moderate myopia. Further sequencing of this gene identified eight other SNPs that showed segregation of variants with myopia.

Age-related macular disease: Protein expression studies in AMD eyes

Donor eye tissue continues to be collected and sections from donor eyes have been analysed for a range of proteins typically associated with neurodegenerative disorders, including Alzheimer's disease.

Linkage analysis in AMD families

Three of our largest AMD families, each with a minimum of eight affected individuals have undergone whole genome scan analysis. Two gene regions have been identified through genetic linkage studies and are being fine mapped in these and other AMD families to narrow the regions of interest in order to uncover disease genes.

Twin analysis

340 twin pairs over the age of 50 years have been recruited and examined through the Australian Twin Registry. A questionnaire, eye exam and DNA sample have been taken from each twin. Psychophysical and phenotypic features have been assessed.

Australia - India collaboration: Developing an AMD risk assessment chip

The development of a risk assessment chip; standardisation of Indian and Australian AMD patient repositories; identification of a common molecular signature (haplotypes) for the complement gene; identification of haplotypes in other genes and correlate these with clinical phenotype and progression. The project is funded under the Commonwelath government Australia-India Strategic Research Fund.

Analysis of SNPs in other AMD genes

An analysis of SNPs in a number of AMD disease associated genes including the CFH, BF, C2, PRSS, LOC. PLEK and CFHR1-5 genes is being undertaken in case control, progression and twin cohorts in collaboration with Professor Greg Hageman, University of Iowa, USA.