Goal 2: Reduce Human Disease

The relationship between genetic variation and disease mechanisms

What is the contribution of individual differences in RNA processing to disease causation, disease modification, disease susceptibility, and positive or negative responses to therapies? Studies using genome sequencing combined with RNA-seq have determined that genetic variation affects regulation of RNA processing as frequently as transcriptional regulation. While transcriptional networks are well defined in heart development and disease, regulatory networks affecting RNA processing (splicing, polyadenylation, translation, RNA stability, RNA localization) have not been defined. A growing number of examples indicate that even with the relatively small amount of information available, RNA processing is a viable therapeutic target.

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Idea No. 632