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Made to Measure: Developing Clinical Tools to Capture the Severity and Progress of DM

Learn more about Dr. Ami Mankodi, principal investigator at the National Institutes of Health’s (NIH) National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Maryland. Dr. Mankodi has been involved in research that has helped shape a fundamental biologic and molecular understanding of myotonic dystrophy (DM).

Modifying Gene Editing Technology for DM

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.

Gene Editing Repurposed Toward Toxic RNA

A novel redirection of CRISPR/Cas9 technology addresses toxic RNA, rather than the genome, as a potential therapy for DM1 and DM2.

Know Your DM1 Repeat Length: It’s Important for Your Cardiac Care

Understanding cardiac and other DM risk factors and planning for the known complications of DM that may affect you can help protect and maintain your quality of life and that of your loved ones.

Molecular Events Underlying Congenital DM

A new study points to the timing of MBNL-dependent RNA processing defects as a major factor in the pathogenesis of CDM.

Understanding and Measuring Fatigue in DM1

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.

MDF at 2017 BIO International Convention

MDF staff recently attended the 2017 BIO International Convention hosted by the Biotechnology Innovation Organization (BIO). BIO offers a partnering track to patient advocacy groups, enabling meetings with companies having potentially mutual interests.

Preclinical Data Behind the Ionis Trial Published

Preclinical animal efficacy data used to support the scientific rational for Ionis’ phase 1/2 clinical trial in DM1 was just published.

New Drosophila Models for DM1 and DM2

New fly models show a DM2 phenotype at least as severe as DM1 and may provide a platform for studies of genetic modifiers and candidate therapy screening in DM.

DM1 Genotype and Cardiac Phenotype

A large retrospective study helps clarify genotype-cardiac phenotype relationships in adult DM1.

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