Thomas A. Cooper, M.D.

Professor
Department of Medicine - Pathology

Dr. Cooper received the award for his work on the pathogenic mechanism of myotonic dystrophy, a microsatellite expansion disorder. His lab was instrumental in demonstrating that the RNA from the expanded repeat is pathogenic. The work highlighted by these publications from the past two years have identified a previously unknown role for metabolic changes in skeletal muscle wasting, a similarly unknown role for altered expression of both miRNAs and mRNAs due loss of MEF2 activity and demonstrate the efficacy of a novel therapeutic approach using antisense oligonucleotide (ASO)-directed RNase H degradation of the toxic RNA. This approach is expected to complete phase 1 and phase 2 trials this year.

Dr. Cooper’s nomination was based on the following publications:

Qin J, Wu SP, Creighton CJ, Dai F, Xie X, Cheng CM, Frolov A, Ayala G, Lin X, Feng XH, Ittmann MM, Tsai SJ, Tsai MJ, Tsai SY. Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy. Nature. 2013 Jan 10; 493(7431):236-40.

Wu SP, Cheng CM, Lanz RB, Wang T, Respress JL, Ather S, Chen W, Tsai SJ, Wehrens XH, Tsai MJ, Tsai SY. The Mef2 transcription network is disrupted in myotonic dystrophy heart tissue, dramatically altering miRNA and mRNA expression. Cell Rep. 2013 May 28; 25(4):417-26.

Yu CT1, Tang K, Suh JM, Jiang R, Tsai SY, Tsai MJ. RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci U S A. 2012 Jul;139(13):2330-9.