DM1

One of the challenges faced by doctors treating patients with myotonic dystrophy type 1 (DM1)—and drug developers designing clinical trials—is the broad difference in the way the disease manifests itself and progresses from patient to patient. MDF Scientific Advisory Committee member Dr. Guillaume Bassez, a neurologist at the Institut de Myologie in Paris, has identified subgroups of the DM population to help address this issue.

The OPTIMISTIC clinical evaluation of exercise training and cognitive behavioral therapy paradigms comes to publication.

Feasibility is demonstrated in mammalian models for a therapeutic strategy that increases MBNL by sequestering MBNL-suppressive miRs.

Insights on the mechanisms that underlie muscle atrophy in DM are provided by studies in a new mouse model.

The RNA binding protein, rbFOX1, competes with MBNL in binding to CCUG_exp, but not CUG_exp repeats, and thereby mitigates DM2.

The review journal, Frontiers in Neurology, is publishing six new articles on myotonic dystrophy.

Intronic GC-rich microsatellite expansions are common in neurological disorders and act to trigger the intronic retention that underlies disease pathogenesis.

Methodology is reported for robust and reliable quantification of mutant and abberantly spliced RNA in cells from DM patients.

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).