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The Evolution of eyeGENE®: The National Opthalmic Disease Genotyping and Phenotyping Network

Tuesday, September 23, 2014 — Poster Session III

12:00 p.m. – 2:00 p.m.

FAES Academic Center



* FARE Award Winner


  • J. B. Yim
  • R. C. Cooper
  • A. V. Garafalo
  • K. E. Goetz
  • R. S. Parrish
  • M. J. Reeves
  • S. J. Tumminia


The last decade has seen a rise in biorepository science and storage of biological material. Since 2003, eyeGENE® has collected and stored genetic and phenotypic information from individuals with rare inherited eye diseases. The eyeGENE® Network was created to facilitate research into the causes and mechanisms of inherited eye diseases both by broadening access to genetic diagnostic testing and creating a national biorepository of genetic samples from highly characterized individuals. The Network is a public-private partnership and consists of a centralized coordinating center, clinical diagnostic laboratories, a patient registry, biospecimen repository and customized database. Samples have been accrued from > 5000 individuals, representing over 35 disease categories. Over 60% of the individuals in the database have received a molecular diagnostic result. eyeGENE® provides researchers access to its biorespository and patient registry for a broad range of collaborative studies. Patients in the Network have been recruited to participate in clinical trials and a variety of research projects including the creation of stem cells for therapy and natural history studies. In the future, eyeGENE® plans to modernize its current database, expand the program internationally, and continue to facilitate investigations of the causes of inherited eye diseases to develop treatments and therapies.

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