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               to improve and refine gene regulatory networks that get disrupted in AMD [20,118,119] . Additionally,
               understanding disease biology has the potential for developing an informed drug development program.
               Though still in infancy, the promises of genetics-based risk assessment in clinics are likely to become a
               reality in coming years. With a better understanding of causal variants underlying GWAS loci, polygenic
               risk scores will likely be incorporated as clinically useful predictive models of AMD. These advancements
               are key for developing reliable paradigms that make it possible to go from maps to mechanisms to medicine
               for AMD.


               DECLARATIONS
               Authors’ contributions
               The author contributed solely to the article.


               Availability of data and materials
               Not applicable.

               Financial support and sponsorship
               Ratnapriya R is supported by Career Development Award from Research to Prevent Blindness (RPB) and
               Young Investigator Grant (M2021017N) from BrightFocus Foundation. This study is also supported by an
               Unrestricted grant from RPB to Baylor College of Medicine.


               Conflicts of interest
               The author declared that there are no conflicts of interest.


               Ethical approval and consent to participate
               Not applicable.

               Consent for publication
               Not applicable.

               Copyright
               © The Author(s) 2022.

               REFERENCES
               1.       Buniello A, MacArthur JAL, Cerezo M, et al. The NHGRI-EBI GWAS Catalog of published genome-wide association studies,
                    targeted arrays and summary statistics 2019. Nucleic Acids Res 2019;47:D1005-12.  DOI  PubMed  PMC
               2.       Lichou F, Trynka G. Functional studies of GWAS variants are gaining momentum. Nat Commun 2020;11:6283.  DOI  PubMed  PMC
               3.       Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A. Age-related macular degeneration: genetics and
                    biology coming together. Annu Rev Genomics Hum Genet 2014;15:151-71.  DOI  PubMed  PMC
               4.       Hellstrand K, Hermodsson S. An immunopharmacological analysis of adrenaline-induced suppression of human natural killer cell
                    cytotoxicity. Int Arch Allergy Appl Immunol 1989;89:334-41.  DOI  PubMed
               5.       Ratnapriya R, Swaroop A. Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-
                    generation sequencing. Genome Med 2013;5:84.  DOI  PubMed  PMC
               6.       Friedman DS, O’Colmain BJ, Muñoz B, et al; Eye Diseases Prevalence Research Group. Prevalence of age-related macular
                    degeneration in the United States. Arch Ophthalmol 2004;122:564-72.  DOI  PubMed
               7.       Klein R, Peto T, Bird A, Vannewkirk MR. The epidemiology of age-related macular degeneration. Am J Ophthalmol 2004;137:486-
                    95.  DOI  PubMed
               8.       Ferris FL, Davis MD, Clemons TE, et al; Age-Related Eye Disease Study (AREDS) Research Group. A simplified severity scale for
                    age-related macular degeneration: AREDS Report No. 18. Arch Ophthalmol 2005;123:1570-4.  DOI  PubMed  PMC
               9.       Ambati J, Fowler BJ. Mechanisms of age-related macular degeneration. Neuron 2012;75:26-39.  DOI  PubMed  PMC
               10.       Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with
                    vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch
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