Research

Ginny Morriss, Ph.D., is exploring whether reducing levels of the CELF1 protein, which are abnormally high in DM1-affected skeletal muscles, has a positive effect on these muscles. She’ll be studying mice in which disease-causing repeat expansions can be induced at any age.

Analysis of data from the French DM-Scope registry lend support to a five-grade model of DM1 that may help guide patient management, biomarker and modifier gene discovery, and clinical trials.

A recent publication suggests that the DM field may be on the cusp of having a critically important molecular biomarker to facilitate decision-making in early-stage clinical trials.

New studies in mouse models show that constitutive or acquired loss of Dmpk has no effects on skeletal or cardiac muscle function.

Since DM1-related loss of muscle mass confounds a common biomarker of kidney dysfunction, creatinine levels, serum cystatin C provides a superior measure of renal dysfunction for both patient management and clinical trials.

A recent study corroborated increased susceptibility to cancer in DM1, for women in particular, and linked the elevated risk to depressed levels of a tumor suppressor microRNA (miRNA).