Research

A review synthesizes the literature into a molecular genetics model of CDM and suggests more answers lie in research on DMPK locus epigenetics.

A concise summary of genome editing efforts in DM1 to date and a look at gaps in getting to an approved therapeutic.

A new study provides insights into how families communicate a diagnosis of DM1.

Epigenetic modifications linked to the pathomechanism of CDM may also play a role in the severity of DM1.

When Carl Shotwell was exploring graduate programs, he came across a fellow in Andy Berglund’s lab at the Center for NeuroGenetics at the University of Florida, who described the work she was doing on myotonic dystrophy.

Data validating a novel commercial method for sizing expanded DMPK repeats in DM1 is published.

The DM-Scope registry model supports the leveraging of clinical research to improve both therapeutic development and patient care.

A MSH3 variant modifies expanded repeat stability and age of disease onset in HD and DM1.

Occurrence of interruptions in expanded CTG repeat tracts represents a key factor in understanding genotype/phenotype correlations in DM1.

Shruti Choudhary’s doctoral work in medicinal chemistry at Duquesne University in Pittsburgh had been focused on cancer and infectious diseases, but when she completed her degree, she turned her attention to myotonic dystrophy. She felt there were plenty of researchers focused on cancer and saw a far greater need to address neurodegenerative conditions.