Research

Determinants of Respiratory Function in DM1

Close monitoring of respiratory function reduces respiratory complications in DM1.

Myotonic Releases RFA for DM1 Genome Editing Research

Myotonic 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.

NIAMS Releases New Funding Opportunities

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

Modifiers of MBNL-Dependent Splicing in Health and Disease

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.

Fuchs’ Corneal Dystrophy in DM1 Patients Lacking the Fuchs’ Mutation

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

DM1 Phenotype Modified by Repeat Interruptions

A key driving factor behind DM1 is the instability of expanded CTG repeats in DMPK, resulting in both germline and somatic expansions in repeat length. Variant CCG-containing CTG repeats are more stable and yield a milder phenotype than corresponding “pure” DM1 alleles.

Understanding Differences Between Myotonic Dystrophy Patients

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.

NIH Evaluates Wellstone Muscular Dystrophy Research Centers Program

MDF strongly encourages patients, families, clinicians, and researchers to respond to the NIH’s Request for Information on the Wellstone Center Program.

NAS Releases Report on Patient Involvement in Research

A new U.S. National Academy of Sciences (NAS) report—Returning Individual Research Results to Participants: Guidance for a New Research Paradigm—should be read by all clinical researchers.

OPTIMISTIC View of DM1

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

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