It has been known for decades that defects in mRNA processing can cause, or contribute to, numerous human diseases. The earliest examples of this involved simply mutations in cis-acting signal sequences (e.g., for splicing and polyadenylation) of target genes, for example the human beta globin gene in beta-thalassemia. But the number of diseases linked to defects in mRNA processing has increased dramatically in the last five to ten years, reflecting in large part insights from deep-sequencing efforts. Indeed, other more interesting mechanisms beyond cis-mutations have emerged, including changes in the concentrations of RNA-binding regulatory proteins and other processing factors in, for example cancer, and mutations that affect the function of not only regulatory proteins but also components of the core splicing machinery, which is seen in various cancers as well as several neurodegenerative diseases. The proteins involved function in a variety of aspects of gene expression, including splicing and polyadenylation/ 3’ end formation of mRNA precursors. Although previous meetings have touched on these topics, this will be the first to focus exclusively on links between mRNA processing and human disease. The meeting will bring together two groups that only infrequently overlap: scientists/physicians whose primary interests center on disease but who have become interested in RNA processing as a result, and scientists who study basic mechanisms of RNA processing and gene expression that have proven to be relevant to disease.