Current Research Interests - 2007
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Genomic-based association studies to identify genetic susceptibility loci and variants for age-related macular degeneration (AMD)
Age-related macular degeneration (AMD) is a multi-factorial disease encompassing a broad spectrum of often progressive clinical phenotypes that is a major cause of visual impairment in the elderly population of the Western countries. AMD will have a major health impact as the number of elder population increases in the coming few decades.
Exciting findings reported over the past few years, from Dr. Swaroop's lab and other several groups, have opened new avenues for genetic investigations. Significant evidence now exists in support of multiple chromosomal regions that harbor AMD susceptibility loci. We have collected, and continue to collect, a large well-characterized population of AMD patients, family members, and controls. Our genetic studies have identified several AMD susceptibility loci.
More recently, we have identified sequence variants in CFH, TLR4 and other genes that exhibit significant association with the disease. For the CFH locus, we have identified Single Nucleotide Polymorphisms (SNPs) that have more significant association with AMD than the Y402H variant. We are completing a study on the AMD second major locus on Chromosome 10q26 (LOC387715/HTRA1). To identify the relevant genetic variations associated with AMD, we have recently completed the genotyping of SNPs from candidate genes belonging to specific biological pathways.
We are also initiating whole genome association study (by CIDR) and re-sequencing of 1q32 and 10q26 regions. Our ultimate goal is to identify molecular targets for therapeutic interventions and drug discovery.
