Molecular Genetics Model of CDM

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

Status Report: Genome Editing in DM1

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

How to Talk about a DM1 Diagnosis

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

Upstream Methylation Impacts Muscle and Respiratory Function in DM1

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

Berglund Lab’s Shotwell Awarded MDF Fellowship

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.

Sizing Expanded DMPK Repeats

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

The DM-Scope Registry Model

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

A Genetic Modifier of DM1

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

A Tighter Relationship Between CTG Repeat Length and DM1 Phenotype?

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

MDF 2019-2020 Fellow Shruti Choudhary Is Focused on Small Molecule Therapies for 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.

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