Advancing Our Understanding of XDP

Since 2014, CCXDP has supported groundbreaking research that has significantly advanced our understanding of XDP. Our funded studies have shown that XDP is associated with the pathogenic insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of the human TAF1 gene. The SVA element contains a hexameric repeat (CCCTCT)n, the length of which varies among patients and is inversely correlated to the age at which symptoms occur. In XDP cell models, the SVA induces multiple abnormalities in TAF1 that reduce overall levels of the full-length transcript.

Our research portfolio consists of experts from many different fields working to understand the mechanisms underlying the neurodegeneration that occurs in XDP and how it could be treated. We welcome new applications from investigators in all disciplines proposing bold and rigorous approaches to the study of XDP, and we encourage projects involving collaborative studies that bring together researchers from different fields with complementary expertise.

In this section, learn more about our annual call for proposals, the types of studies we have funded, and the experimental resources available for funded research.