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Epigenetic Factors Associated with the Development of Age-related Macular Degeneration

Posted Apr 07 2013 8:00pm

Description of Invention:
Recent studies have demonstrated genetic associations between Age-related Macular Degeneration (AMD) and specific genes. In the case of identical twins in which only one twin develops AMD, a direct genetic cause seems unlikely. NIH researchers explored the epigenetic mechanisms that control the pathogenesis of AMD. A DNA methylation study identified sites on selected gene promoters that can potentially serve as markers to distinguish patients likely to develop AMD from those less likely to develop the disease. The strongest association was found in the IL17RC gene and later studies confirmed this association, first in siblings that were discordant for AMD and then in AMD patients as compared with age-matched controls.

Diagnosis of Age-related Macular Degeneration

This technology is potentially a more sensitive means of diagnosing patients with AMD.

Development Status:
In vitro data available

Lai Wei (NEI)
Robert B Nussenblatt (NEI)
Chi-chao M Chan (NEI)
Baoying Liu (NEI)

Patent Status:
HHS, Reference No. E-075-2011/0
PCT, Application No. PCT/US2012/022511 filed 25 Jan 2012

Relevant Publication:
  1. Wei L, et al. [ PMID 23177625 ]

For Licensing Information Please Contact:
Jaime Greene M.S.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-5559
Fax: 301-402-0220

Ref No: 2551

Updated: 04/2013

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