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September 6, 2018

As a young cardiologist, Dr. Denis Duboc didn’t think it made much sense that his fellow specialists would treat patients with myotonic dystrophy (DM) and other muscle diseases as if they were treating other cardiology patients. Since becoming a researcher, his work has focused on better ways to provide care for DM patients.

September 6, 2018

David Berman was abruptly introduced to myotonic dystrophy when his wife Sarah gave birth to their daughter Zoé in December 2007. Doctors were immediately concerned with her floppiness and inability to feed. For the first few days of her life, Zoé was fed with formula in a tiny tube that ran along one of her parents’ fingers and into her mouth. This still required enormous effort by Zoé, and the doctors feared that feeding might be burning more calories than it provided.

September 6, 2018

Peer-reviewed Medical Research Program (PRMRP) consumer advocate Suzette Ison recently participated in the evaluation of research applications submitted to the PRMRP sponsored by the Department of Defense. Suzette was nominated for participation in the program by the Myotonic Dystrophy Foundation, located in San Francisco, Califronia. As a consumer reviewer, she was a full voting member, (along with prominent scientists) at meetings to help determine how the $330 Million appropriated by Congress for Fiscal Year 2018 will be spent on PRMRP research.

September 6, 2018

Close monitoring of respiratory function reduces respiratory complications in DM1.

August 14, 2018

MDF has released a Request for Applications for projects that address the evaluation of genome editing strategies for DM1. The focus of this RFA is early stage discovery and development of in vivo genome editing technologies. Up to two awards of $250,000 each are planned.

August 14, 2018

NIAMS issues new funding opportunities that encourage innovative research—really!!

August 14, 2018

Recent studies have shown that MBNL exhibits differential dose-response relationships across the various gene translation events that it regulates in health and disease. It is as yet unclear precisely how the structure of the pre-mRNA itself contributes to patterning of MBNL-dependent alternative splicing.

August 14, 2018

Fuchs’ endothelial corneal dystrophy is mechanistically related to and commonly observed in DM1 families even in the absence of the Fuchs’ mutation.

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