September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Revisiting the Mendelian disease paradigm: Lessons from next-generation sequencing for retinal and macular degenerative diseases
Author Affiliations & Notes
  • Anand Swaroop
    National Eye Institute, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Anand Swaroop, None
  • Footnotes
    Support  National Eye Institute Intramural Research program
Investigative Ophthalmology & Visual Science September 2016, Vol.57, No Pagination Specified. doi:
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      Anand Swaroop; Revisiting the Mendelian disease paradigm: Lessons from next-generation sequencing for retinal and macular degenerative diseases. Invest. Ophthalmol. Vis. Sci. 201657(12):.

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      © ARVO (1962-2015); The Authors (2016-present)

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Presentation Description : Next generation sequencing technologies have revolutionized the field of medicine with rapid identification of disease-associated genes, mutations and variations, promising a more accurate diagnosis, prognosis and precision medicine initiatives in clinical practices. Many previously unknown and dynamic aspects of the genome in health and disease are presenting opportunities as well as challenges; for example, a healthy human genome can include ~100 loss of function coding variants, yet many loss of function mutations cause lethality or disease. Phenotypic variations in Mendelian diseases, caused by mutations in a single gene, suggest genetic interactions including functional modifiers, contributions of more than one gene, and/or gene compensation. Inherited retinal and macular degenerative disorders (RDDs) are among the most sucessfully studied Mendelian diseases with mutations in over 200 genes identified to date. RDDs display vast clinical and genetic heterogeneity, confounding molecular diagnosis and treatment strategies. For refining our understadning of genetic architecture of RDDs, we have performed whole exome sequencing in over 500 RDD patients from different ethnic backgrounds. In addition to identifying the “primary” mutation, WES has allowed us an unbiased genome-wide view of all the variants that are likely to hold keys for explaining genotype-phenotype relationships and genetic interactome. Our studies constitute a necessary step forward for personalized, evidence-based medicine of retinal and macular diseases.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.


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