Research Summary: An international collaboration of clinicians, geneticists, and other researchers, called the age-related macular degeneration (AMD) GeneConsortium, have made a breakthrough discovery of seven new genes associated with the risk of advanced forms of AMD. The consortium, including BrightFocus-funded researchers Dr. Hendrik Scholl and Dr. Tien Y. Wong, compared the entire genome (DNA) sequence of more than 17,100 individuals diagnosed with advanced AMD (including "wet" AMD and a form of "dry" AMD called geographic atrophy) with the genome sequences of more than 60,000 individuals of European and Asian ancestry. They found 19 DNA "loci" (locations) positioned close to genes that are already known to help control the immune system, fat metabolism, blood vessel growth, or remodeling of the matrix "glue" that holds cells together. Seven of the 19 loci are near genes that haven't yet been associated with AMD and are ripe targets for future research into causes of and treatments for this devastating disease.

Significance: Not all types of AMD progress to advanced stages, but when it does, vision may quickly diminish to levels of legal blindness. For individuals currently diagnosed with AMD, and family members at risk of developing AMD, this BrightFocus-funded breakthrough has identified seven new risk genes as targets for future research into understanding what drives the disease to later, vision-disabling stages. Eventually, this information may provide clues on how to stop the progression of AMD to vision-robbing advanced stages.

For more information:

• View the original press release from the National Eye Institute and Vanderbilt University
• Read more about the BrightFocus research grants for Dr. Scholl and Dr. Wong
• View the original scientific abstract that was published in the journal, Nature Genetics
• The following co-authors on this scientific paper are current and previous BrightFocus awardees:
  • Dr. Anita Agarwal: one current grant (1)
  • Dr. Peter Campochiaro: three previous grants (1,2,3)
  • Dr. Albert Edwards: one previous grant (1)
  • Dr. Michael Gorin: one previous grant (1) 
  • Dr. Peter Francis: one previous grant (1)
  • Dr. Stephanie Hagstrom: one previous grant: (1)
  • Dr. Jonathan Haines: one previous grant (1) and one current grant: (1)
  • Dr. Margaret Pericak-Vance: two current grants (1,2)
  • Dr. Jie Jin Wang: one previous grant: (1)
  • Dr. Donald Zack: two current grants (1,2) and two previous grants (1,2)
• The co-author on this scientific paper, Dr. Michael Gorin, is a scientific advisor for BrightFocus Foundation.