Researchers identified some of the genetic variants that cause age-related macular degeneration (AMD). The study involved stem cells to learn more about this common cause of vision loss. While there is still much scientists do not know about AMD, people with a family history of the blinding eye disease are at higher risk.
University of California San Diego School of Medicine researchers revealed the importance of a specific genetic variation that affects expression of a gene that is partly responsible for new blood vessel growth. The genetic variation is the amount of VEGFA produced, which plays a role in AMD development.
"We didn't start with the VEGFA gene when we went looking for genetic causes of AMD," said senior author Kelly A. Frazer, PhD, professor of pediatrics and director of the Institute for Genomic Medicine at UC San Diego School of Medicine. "But we were surprised to find that, with samples from just six people, this genetic variation clearly emerged as a causal factor."
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“Personalized 'eye-in-a-dish' models reveal genetic underpinnings of macular degeneration”