Display options
Cite
Swaroop A, Sieving PA. The golden era of ocular disease gene discovery: race to the finish. Clin Genet. 2013;84(2):99-101doi: 10.1111/cge.12204.
Swaroop, A., & Sieving, P. A. (2013). The golden era of ocular disease gene discovery: race to the finish. Clinical genetics, 84(2), 99-101. https://doi.org/10.1111/cge.12204
Swaroop, A, and Sieving, P A. "The golden era of ocular disease gene discovery: race to the finish." Clinical genetics vol. 84,2 (2013): 99-101. doi: https://doi.org/10.1111/cge.12204
Swaroop A, Sieving PA. The golden era of ocular disease gene discovery: race to the finish. Clin Genet. 2013 Aug;84(2):99-101. doi: 10.1111/cge.12204. PMID: 23713688; PMCID: PMC4240531.
Copy Download .nbib Format: NLM
Share it on

Clin Genet. 2013 Aug;84(2):99-101. doi: 10.1111/cge.12204.

The golden era of ocular disease gene discovery: race to the finish.

Clinical genetics

A Swaroop, P A Sieving

Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA. [email protected]

PMID: 23713688 PMCID: PMC4240531 DOI: 10.1111/cge.12204

Abstract

Within the last decade, technological advances have led to amazing genetic insights into Mendelian and multifactorial ocular diseases. We provide a perspective of the progress in gene discovery and discuss the implications. We believe that the time has come to redefine the goals and begin utilizing the genetic knowledge for clinical management and treatment design. The unbelievable opportunities now exist for those nimble enough to seize them.

Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

Keywords: clinical management; genetics; next-generation sequencing; ocular disease; therapies; vision

References

  1. Nat Biotechnol. 2012 Nov;30(11):1033-6 - PubMed
  2. Am J Hum Genet. 2005 Jul;77(1):149-53 - PubMed
  3. Hum Gene Ther. 2008 Oct;19(10):979-90 - PubMed
  4. Nature. 1984 May 17-23;309(5965):253-5 - PubMed
  5. Genomics. 1990 Sep;8(1):179-81 - PubMed
  6. Annu Rev Anal Chem (Palo Alto Calif). 2013;6:287-303 - PubMed
  7. Annu Rev Genomics Hum Genet. 2011;12:407-30 - PubMed
  8. Am J Hum Genet. 1985 Mar;37(2):250-67 - PubMed
  9. N Engl J Med. 2008 May 22;358(21):2240-8 - PubMed
  10. JAMA. 2001 Feb 7;285(5):540-4 - PubMed
  11. Arch Ophthalmol. 2012 Jan;130(1):9-24 - PubMed
  12. Nature. 1990 Jan 25;343(6256):364-6 - PubMed
  13. Nat Rev Genet. 2013 Jun;14(6):415-26 - PubMed
  14. Nat Rev Genet. 2011 Aug 18;12(9):628-40 - PubMed
  15. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25 - PubMed
  16. Science. 2005 Apr 15;308(5720):419-21 - PubMed
  17. Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32 - PubMed
  18. Science. 2005 Apr 15;308(5720):385-9 - PubMed
  19. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7395-400 - PubMed
  20. Cell. 2011 Sep 30;147(1):70-9 - PubMed
  21. Nature. 1986 Oct 16-22;323(6089):643-6 - PubMed
  22. Science. 1986 Apr 11;232(4747):193-202 - PubMed
  23. Nat Genet. 2013 Apr;45(4):433-9, 439e1-2 - PubMed
  24. Science. 1987 Mar 13;235(4794):1394-9 - PubMed
  25. Nat Rev Genet. 2010 Jan;11(1):31-46 - PubMed
  26. N Engl J Med. 2008 May 22;358(21):2231-9 - PubMed
  27. Science. 2005 Apr 15;308(5720):421-4 - PubMed
  28. Adv Otorhinolaryngol. 2011;70:56-65 - PubMed
  29. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7401-6 - PubMed
  30. Nat Rev Genet. 2010 Jul;11(7):476-86 - PubMed
  31. Nature. 2003 Dec 18;426(6968):789-96 - PubMed

MeSH terms

Publication Types

Grant support