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Investigators at the University of California San Diego, the University of Florida, and the National University of Singapore have recently reported early research that potentially ‘repurposes’ gene editing technology for a set of RNA disorders—myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), a subset of Lou Gehrig’s disease (ALS) patients and Huntington’s disease. They have modified the Cas9 enzyme so it is targeted to toxic RNA, instead of the expanded DNA repeats in these diseases.

Although fatigue represents a substantial burden in DM1, tools must be validated to assess its diverse contributing factors in order to develop clinical trial endpoints and effective therapies.

The UK DM Patient Registry reports on disease burden for 556 patients with a confirmed diagnosis of DM1.

A multi-center study suggests serum cardiac troponin-1 levels predict risks of left ventricular dysfunction in DM1 patients.

When Dr. Thurman Wheeler was a resident in neurology, he remembers a senior physician telling him that myotonic dystrophy would probably be one of the most difficult diseases to treat because it involves so many body systems.

Studies of AMPK/mTORC1 signaling in DM1 identify novel therapeutic targets for DM, and may offer an opportunity to repurpose approved drugs for both muscle and cognitive symptoms.

In partnership with MDF, the Wyck Foundation awarded a number of new DM research grants.

In November, Myotonic Dystrophy Foundation (MDF) staff met with the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS) senior leadership and program/policy staff to discuss research opportunities and federal support for myotonic dystrophy (DM). Discussions focused on two areas: the scientific workforce and biomarker and registration endpoint development.

A new quality of life study found that some DM2 patients are impacted as severely as those with DM1. Read more on the findings here.

MDF Executive Director Molly White and Research Director Sharon Hesterlee recently attended the International Myotonic Dystrophy Consortium meeting in Paris. Sharon has created a report-out to the community on a selection from the more than 160 presentations and posters, to keep you apprised of some of the newest updates and information. 

Researchers at the University of Virginia recently published a paper describing a biological pathway they believe may be responsible for muscle degeneration in DM1.

Several scientists have published the results of important DM research. Dr. Katharine Hagerman, PhD, Research Assistant at Stanford University, has provided MDF with lay summaries of some of this research.

Researchers identify the gene believed to be responsible for adverse statin drug side effects in DM2 patients.  

A recently published study from Sweden reported impaired facial recognition in people with DM1 and indicated that there are brain differences that affect how faces are perceived and stored by people with DM1.

Researchers have published several recent studies on advances in DM research.

Ionis Pharmaceuticals (formerly Isis Pharmaceuticals, Inc.) announced the identification of a drug development candidate, IONIS-DMPKRx, designed to treat Myotonic Dystrophy Type 1 (DM1), which they plan to advance into human clinical trials next year.

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