As Matthew Brown listened to his cousin Emily describe the symptoms that led to doctors diagnosing her with having multiple sclerosis, he grew concerned. The problems she described—an inability to relax her hand, a freezing of her tongue that made it impossible to talk at times, and gastrointestinal issues—were the same ones he had been experiencing.
Chimeric proteins elucidate mechanisms of MBNL binding and regulation of alternative splicing, and suggest a path to optimize therapeutic strategies for DM.
Conceptually sound strategies exist to repair or replace defective genes that cause disease—what will it take to ensure these are safe and effective?
A novel optical imaging approach helps characterize the central nervous system phenotype of DM2 mice.
MDF holds an offsite planning meeting in January every year to look at the Care and Cure landscape for myotonic dystrophy. The annual goals are to identify urgent and high-impact opportunities to improve the quality of life of every person living with this disease while continuing to accelerate the search for therapies.