William Cruikshank, PhD (Boston University) received $25 K two year grant award to study breathing issues in the DyW mouse model of LAMA2-CMD (MDC1A, Merosin Def CMD). The 2 main goals of this study are to investigate whether the mouse model suffers from progressive breathing problems and thus models human disease and whether a pharmacologic treatment, NBD (an NKFκB inhibitor) shown to improve the disease in mouse also improves breathing parameters. In addition, the study will evaluate smooth muscle involvement of the airways in the animal model.
James Dowling, MD, PhD (University of Michigan) receives $35K for one year of funding to evaluate 2 stable CMD zebrafish models, the LAMA2-CMD model (caf) and recently created COL6-RM model. Dr. Dowling’s study will evaluate both models thoroughly, creating an open access database to enable sharing of his data in these and other congenital muscle disease zebrafish models (RYR1-RM and MTM) with the global scientific community. Both the caf and COL6 zebrafish model will undergo medium throughput screening using the FDA approved Prestwick drug library to identify classes of drugs that highlight new mechanisms to target and potential therapies. Dr. Dowling just completed published work in the nebulin and ryanodine receptor zebrafish models.
Gisele Bonne, PhD (INSERM, France) receives $40K two year annual award to study a new gene therapy approach called RNA trans-splicing in 2 models of LMNA related dystrophy. Dr. Bonne originally identified the LMNA gene and has created two models: one replicating Emery Dreifuss muscular dystrophy and the other, replicating LMNA-CMD. The study aims to investigate whether this type of gene therapy that targets RNA, not DNA, provides a lasting correction to the 2 mouse models.