Some of you may have watched the news show, 60 Minutes, on April 29th. The 60 Minutes piece of interest to everyone with an inherited disease, like DM, was titled: “CRISPR: The Gene-Editing Tool Revolutionizing Biomedical Research”.
When cardiologist Dr. William J. Groh examined a young woman with an arrhythmia in 1995, he thought it was unusual. She did not have known heart disease or heart failure that would normally be associated with a serious heart rhythm disturbance. What she did have, though, was myotonic dystrophy (DM).
Human iPSC-derived cardiomyocytes recapitulate some features of the DM1 heart.
Subcellular compartmentalization of MBNL1 plays a key role in regulation of neurite differentiation and its disruption may contribute to CNS defects in DM.
A new publication details organization of and data from a Canadian neuromuscular disease registry.