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.
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.
MDF strongly encourages patients, families, clinicians, and researchers to respond to the NIH’s Request for Information on the Wellstone Center Program.
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.
The OPTIMISTIC clinical evaluation of exercise training and cognitive behavioral therapy paradigms comes to publication.