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Research

Determining DM Patients at Greatest Risk for Cardiac Problems

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).

Using iPSC-Derived Cardiomyocytes to Understand DM1

Human iPSC-derived cardiomyocytes recapitulate some features of the DM1 heart.

New Release: Research Funding Opportunity from the PRMRP

The Department of Defense’s Peer Reviewed Medical Research Program now accepts grant applications for research on myotonic dystrophy.

Regulation of MBNL1 Localization and Function in the CNS

Subcellular compartmentalization of MBNL1 plays a key role in regulation of neurite differentiation and its disruption may contribute to CNS defects in DM.

NHGRI Genomic Medicine Research Initiative

The National Human Genome Research Institute has issued new funding opportunities for research targeted using a patient’s genomic information to inform clinical care.

Determinants of Respiratory Function in DM1

Close monitoring of respiratory function reduces respiratory complications in DM1.

DM and the Canadian Neuromuscular Disease Registry

A new publication details organization of and data from a Canadian neuromuscular disease registry.

Predictors of DM1 Patient Survival

A new scoring system identifies key risk factors and a novel tool for assessment of DM1 patient life expectancy.

Thanks Dr. John Porter, Welcome Dr. Lisa Ackermann!

MDF is bidding a very fond farewell to John Porter, PhD, as MDF’s Chief Science Officer, and bidding a very warm hello to Elizabeth (Lisa) Ackermann, PhD.

Speech Disorders in Congenital and Childhood DM1

Speech disorders (dysarthria) in CDM and childhood-onset DM1 have long been recognized and surveillance by speech and language therapists is an important aspect of patient care. Facial weakness and myotonia, and involvement of oral cavity, palatopharyngeal and respiratory muscles, are known to contribute to speech impairment.

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