At the very top of the Rensselaer Polytechnic Institute’s website reads a bold statement and call to action: “Why not change the world?” As one of the United States’ most renowned research universitis, Rensselaer has infused a love for community and meaningful change into everything it does. Now, Professor Christopher Cioffi is applying that mission in a new way: by studying an inherited retinal disorder called Stargardt disease.
In news published by Katie Malatino, readers learn that the National Institutes of Health (NIH) provided a grant of $2.5M to Professor Cioffi, who teaches organic chemistry, to work towards the development of a Stargardt disease treatment. Additional primary investigators for this study include Gennadiy Moiseyev (Wake Forest University) and Konstantin Petrukhin (Columbia University).
Finding a novel treatment would be incredibly impactful. Right now, there are no cures for Stargardt disease…but there aren’t really any available treatments either. People with this condition are encouraged to make healthy lifestyle changes and wear hats and dark glasses in public. But more is needed to provide this community with beneficial care. Not having an effective treatment can make living with this rare condition even more frightening or isolating.
Currently, the team is developing novel RPE65 inhibitors. RPE65 is an enzyme that plays a role in visual health. When the gene that encodes for this enzyme is mutated, it causes a loss of visual acuity and other vision problems. The research team hopes that these inhibitors can preserve visual health.
About Stargardt Disease
ABCA4 mutations are the most common cause of Stagardt disase, a rare genetic eye disease that causes lipofuscin and other fatty material to accumulate in the eyes – most particularly in the macula, a part of the retina that helps keep your vision clear. In many cases, vision loss begins in childhood or adolescence. However, in milder cases, vision loss may not happen or be noticeable until someone is an adult. Although Stargardt disease causes progressive vision loss, it’s rare for people to completely lose their vision; instead, it falls to 20/200 or worse. Symptoms may include vision loss in both eyes, color blindness, peripheral vision loss, sensitivity to bright light, difficulty adjusting when moving from light to dark rooms, or dark or hazy spots in your central vision.
