Predictive Test for Age-Related Macular Degeneration in Asymptomatic Individuals

Description of Technology: 

Age-related macular degeneration (ARMD) is the leading cause of severe, irreversible vision loss for those over the age of fifty in the United States and in other developed countries.  Thirteen million Americans over the age of forty have ARMD.  ARMD is caused by the deterioration of the central area of the retina, or macula, resulting in a loss of central vision.  This disease is believed to be a multigenic disorder, and is triggered by environmental factors such as smoking, age or diet in genetically susceptible individuals.

The present invention describes a highly predictive genetic test for universal practical clinical use to identify individuals at increased risk for ARMD.  It comprises a rapid, accurate and affordable genetic screen, utilizing DNA microarray technology on a single chip.  Sixteen genes are screened for 90 mutations/polymorphisms associated with ARMD, with a high predictive power (up to 92.7%) to identify asymptomatic carriers at risk.  Accurate prediction of genetic susceptibility to this disorder will allow interventions to protect at-risk individuals.

Applications: 

• Method to diagnose ARMD
• Diagnostic kit to identify asymptomatic individuals at risk for ARMD
• Method to identify genetic factors in an affected individual, aiding in the development of a tailored therapeutic plan
• Provide genetic epidemiologic data to elucidate the role of genetic factors in the progression of the disease

Advantage: 

Easy, rapid high-throughput method to diagnose ARMD

Development Status: 

This technology requires analytic validation before commercialization.

• U.S. Patent Application No. 12/089,694 filed 09 Apr 2008 (HHS Reference No. E-023-2006/0-US-07)
• Australian Patent Application No. 2006311966 filed 02 Nov 2006 (HHS Reference No. E-023-2006/0-AU-03)
• Canadian Patent Application No. 2,627,686 filed 02 Nov 2006 (HHS Reference No. E-023-2006/0-CA-04)
• European Patent Application No. 06836855.4 filed 02 Nov 2006 (HHS Reference No. E-023-2006/0-CA-04)
• Japanese Patent Application No. 2008-539046 filed 01 May 2008 (HHS Reference No. E-023-2006/0-JP-06)

Inventors: 

Cigdem F. Dogulu, Owen M. Rennert, Wai-Yee Chan (NICHD)

Licensing Status: 

Available for exclusive or non-exclusive licensing.

Collaborative Research Opportunity: 

The NICHD Section on Clinical Genomics is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize Method Evolved for Recognition and Testing of Age-Related Macular Degeneration (MERT-ARMD).  Please contact John D. Hewes, Ph.D. at 301-435-3121 or hewesj@mail.nih.gov for more information.