Functional Genomics in AMD: From Genetic Associations to Understanding Disease Mechanisms
Time: 11:30 am
day: Conference Day 1
Details:
- Genome-wide association studies (GWAS) have identified >60 loci that are associated with AMD; main disease pathways include the complement system, lipid metabolism, and extracellular matrix
- The vast majority of AMD-associated loci have not yet been assessed in functional studies. Functional genomics approaches can help unravel causal variants, genes and disease mechanisms. Quantitative trait loci (QTLs), chromatin accessibility and chromatin capture can help prioritize causal genes in GWAS loci; recent studies have pinpointed to genes in other pathways
- A shift to functional genomics is needed to capitalize on the success of GWAS studies in AMD, including the need for additional and larger datasets, and validation studies in disease-relevant cell types
