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Complexity of gene output

The realization that most human genes generate multiple mRNAs encoding divergent protein isoforms via alternative splicing and polyadenylation has revealed extensive regulation that remains to be explored.

Alternative pathways of RNA processing are regulated in response to signaling cues often coordinating expression of gene networks in response to physiological change including in development and disease.

We are interested in understanding the mechanisms and consequences of this regulation, from how RNA binding proteins and signaling pathways coordinate RNA processing networks to the functional consequences of the different protein isoforms that are expressed in different cell states.

We also investigate the pathogenic mechanisms of myotonic dystrophy, type 1 (DM1), an autosomal dominant neuromuscular disorder affecting multiple tissues including muscle, heart and the central nervous system. The pathogenic mechanism is disruption of developmentally regulated RNA processing, primarily alternative splicing, in which failure to express adult splicing patterns causes primary features of the disease.

The understanding of the molecular mechanisms of DM1 pathogenesis has led to development of several therapeutic approaches some of which are being testing using mouse models established in the lab.

These investigations utilize a combination of cell culture and genetic models including transgenic and knock out mouse lines for RNA binding proteins, CRISPR-derived mouse lines in which specific alternative exons are removed, and DM1 mouse models.

The overlapping areas of investigation in the lab lead to synergistic and collaborative interactions in which knowledge gained in one area fosters progress in the others.