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.
Applications: Diagnosis of Age-related Macular Degeneration
Advantages: This technology is potentially a more sensitive means of diagnosing patients with AMD.
Development Status: In vitro data available
Inventors: Lai Wei (NEI) Robert B Nussenblatt (NEI) Chi-chao M Chan (NEI) Baoying Liu (NEI)
For Licensing Information Please Contact: Jaime Greene M.S. NIH Office of Technology Transfer 6011 Executive Blvd. Suite 325, Rockville, MD 20852 United States Email: firstname.lastname@example.org Phone: 301-435-5559 Fax: 301-402-0220