Need and Opportunity
Age-related macular degeneration (AMD) is the most common cause of irreversible blindness in the western world—affecting millions of people in the U.S. alone1. While anti-VEGF therapeutics have transformed the treatment of the wet form of AMD, most patients have the dry form of the disease — for which there are no approved therapies.
As dry AMD progresses, regions of the retina are damaged, and eventually patches of atrophy can develop and expand resulting in irreversible vision loss. Since AMD typically affects central vision, which is used to read, drive a car or recognize the faces of loved ones — the impact on quality of life can be significant. Patients with certain genetic variants may have a high risk of faster disease progression and subsequent vision loss (and may also be at risk of developing systemic morbidities).
From Genetics, a New Path Forward for AMD
AMD is a complex disorder, with genetics, lifestyle and environmental factors influencing the risk of vision loss2. Millions of people are born with common gene variants, which can more than double the risk of developing advanced AMD. Recently, scientists have identified rare variants that put a person at extremely high risk (e.g. 20X or more) for advanced AMD1,3, increase the likelihood they will develop AMD earlier in life, while also increasing the risk of systemic morbidities and associated rare diseases.
Selected Rare Variants
More than 30 genes and hundreds of mutations have been associated with the development of AMD2. To select the most promising therapeutic targets and the patients most likely to benefit, we’re using a multistep process involving genetics, functional characterization and clinical research.