NIH R01 · 2024
Understanding ABCA4 Variants of Unknown Significance Through Computational and Functional Approaches
ABSTRACT Variants in the ABCA4 gene are a fundamental cause of several inherited retinal degenerations (IRDs), including Stargardt macular dystrophy, fundus flavimaculatus, and cone-rod dystrophy; these three ABCA4- driven diseases cause blindness in 1.4 million people worldwide. As a result, genetic testing of ABCA4 is increasingly common in clinical settings. Of the 1,485 identified missense variants in ABCA4, 50% are of unknown pathogenicity (variants of unknown significance, VUS). This genetic uncertainty leads to three key problems: (i) for IRD patients who have multiple unclassified ABCA4 mutations, it is impossible to predict which variant will cause disease in relatives who have not…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.