June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
eyeGENE®: a cross-cutting international inherited eye disease clinical research network
Author Affiliations & Notes
  • Santa J Tumminia
    Office of the Director, National Eye Inst/NIH, Bethesda, MD
  • Delphine Blain
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Remy C Cooper
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Alexandra V Garafalo
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Jemma Iano-Fletcher
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Rebecca S Parrish
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Melissa J Reeves
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Annette Yim
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Kerry E Goetz
    Ophthalmic Genetics Visual Function Branch, NEI/NIH, Bethesda, MD
  • Footnotes
    Commercial Relationships Santa Tumminia, None; Delphine Blain, None; Remy Cooper, None; Alexandra Garafalo, None; Jemma Iano-Fletcher, None; Rebecca Parrish, None; Melissa Reeves, None; Annette Yim, None; Kerry Goetz, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 1250. doi:
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    • Get Citation

      Santa J Tumminia, Delphine Blain, Remy C Cooper, Alexandra V Garafalo, Jemma Iano-Fletcher, Rebecca S Parrish, Melissa J Reeves, Annette Yim, Kerry E Goetz; eyeGENE®: a cross-cutting international inherited eye disease clinical research network. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1250.

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

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Abstract

Purpose: eyeGENE® is an international genomic medicine initiative created by the National Eye Institute in response to gene-based opportunities in vision research. Its goal is to facilitate research into the etiology, cell biology and treatment of inherited eye diseases by granting controlled access to genotype-phenotype data, DNA, and individuals consented to participate in research and clinical trials.

Methods: eyeGENE® is a multi-directional framework linking an individual’s clinical information with his/her DNA and genetic results. It includes a patient registry, biorepository and database. Affected individuals enroll through a referring physician. Blood is collected in K2 EDTA tubes, shipped to eyeGENE® and processed according to an IRB-approved protocol and CLIA regulations. DNA is extracted using Gentra Puregene chemistry, and concentrations measured using a NanoDrop 1000. Extracted DNA is stored in the eyeGENE® Biorepository, with a de-identified portion sent to a Network CLIA laboratory for molecular diagnostic testing.

Results: The Network has >300 registered clinical organizations in the U.S. and Canada. It tests >100 genes in 35 categories, and has accrued >5500 patients; ~70% having genetic results. Retinitis pigmentosa and Stargardt disease categories each have >1200 patients; with 7 additional categories each having >100 individuals. Over 300 novel mutations and >275 new variants of unknown significance have been identified. eyeGENE® research studies range from validation of high-throughput screening methods, to stem cell line generation, to genotype-phenotype analyses.

Conclusions: eyeGENE® participation yields molecular diagnoses, identification of new disease-causing genes and variants, clinical trial involvement and access to high-quality DNA linked to genotype and phenotype. Further international expansion has been a goal for several years. eyeGENE® International will soon pilot in Italy and Japan to develop processes for data collection, cross-talk between systems and query functionality creating a large-scale federated data system. eyeGENE® is developing common data elements and standard measures and will release a subset of LOINC encoded standardized terms for public use in 2015. Efforts will continue to develop controlled data collection opportunities across international sites allowing patients, health care professionals, and researchers to broadly collaborate to further vision research.

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