Unter top 4 ist Ataluren bei Nonsene Mutationen aufgeführt.
Die Kanadische Forscherin Gregory-Evans führt derzeit die Aniridia Studie durch.
Scientists are working to identify and develop new drug with the capacity to preserve remaining vision and prevent further vision loss. In 2016, three FFB-funded researchers made critical steps toward making new drug therapies for blinding eye diseases a reality.
4. Dr. Cheryl Gregory-Evans is developing a drug that would address one type of disease-causing mutation, known as a “nonsense” mutation, which is responsible for approximately 35% of all cases of Leber congenital amaurosis (LCA). Nonsense mutations cause premature stop signs, which lead to non-functional proteins. The absence of these necessary proteins cause disease. Dr. Gregory-Evans is pioneering a nonsense read-through therapy, which uses drugs that allow the cellular machinery to ignore the incorrect stop sign and produce full-length, functional proteins. This year, her team made key progress with their discovery that if the drugs are given early enough then the retina can be preserved. This positive data with their work on LCA means that they can test this drug combination approach for other retinal diseases!