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08/14/2018 - 8:47am

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

08/14/2018 - 8:38am

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.

08/14/2018 - 8:33am

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

08/14/2018 - 8:31am

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.

08/09/2018 - 5:07pm

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.

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