A novel lab-on-chip system can speed processing and high sensitivity analysis of expanded repeat sequences, thereby improving the molecular diagnosis of DM.
A new bi-transgenic mouse with fluorescent reporters incorporated into a mini-gene allows sensitive, in vitro monitoring of DM1-related alternative splicing.
Chuck Hunt’s daughter Carly was an accomplished equestrian ranked 18th in the nation, but her struggles in school were growing. The problems were serious enough that Chuck decided to homeschool his daughter, starting in the seventh grade. Much later, Carly suffered hand cramps that led to a myotonic dystrophy diagnosis at age 18.
Loraine Dressler from Huntington Beach, California is the main caregiver for her grandson Zen, who was diagnosed with congenital myotonic dystrophy at birth. Zen’s severe disabilities haven't stopped her from traveling with Zen, in fact, she has been traveling with him since he was 2 years old. Zen is now 6 years old and Loraine has learned many tips and tricks along the way.
A new review article addresses advances in exploiting the biology of RNA with small molecule drug strategies.
A novel genome editing strategy removes expanded CUG repeats in DMPK transcripts.
TREAT-NMD’s TACT process provides unbiased feedback on drug development programs in neuromuscular diseases.
When Suzanne Perkins’ 16-year-old daughter Eliza had trouble opening jars and closing car doors, she took the teenager to the doctor, confident she would pin the problem on too much texting. But when her doctor sent her to a neurologist, Eliza’s diagnosis came quickly and with a wallop.