News

Young boys with Duchenne muscular dystrophy (DMD) have a higher rate of bone fractures than healthy children, a retrospective study shows. The fractures are more frequent in lower limbs and decrease the patients’ ability to walk, leading to wheelchair dependence. The study, “Fractures and bone health monitoring in boys…

Restoring a functional dystrophin gene using the genome editing tool  CRISPR-Cas9 corrected a common mutation behind Duchenne muscular dystrophy (DMD), exon 44 deletion, in mice and human cells, a study shows. The same…

Engineered small versions of dystrophin protein, known as microdystrophins, have shown the ability to enhance muscle strength and function in preclinical models of Duchenne muscular dystrophy (DMD). Researchers from the University of Washington have now developed enhanced versions of these microdystrophins that can overcome some of the…

Building on their international trade association’s relationship with the Muscular Dystrophy Association (MDA), two Virginia firefighters will set out on a 130-mile hike this month to raise awareness of the partnership, and to promote newborn screening for neuromuscular conditions. The firefighters — medic Joe Jarman and lieutenant Travis…

Vamorolone, an experimental treatment for Duchenne muscular dystrophy (DMD), combines the benefits of two existing therapies — prednisone and eplerenone — on heart and muscle health, but with less detrimental side effects, a study in animal models of the disease reports. The study, “Vamorolone targets dual nuclear receptors to treat…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

To raise awareness and money to back efforts that help those living with muscular dystrophy (MD), the Muscular Dystrophy Association (MDA) has launched its venerable #MDAShamrocks campaign. More than 20,000 businesses throughout the nation are expected to participate in this, the 37th annual St. Patrick’s Day-themed program to…

CureDuchenne, one of the nation’s leading Duchenne muscular dystrophy (DMD) charities, is sponsoring 30 events across the U.S. this year to educate patients and their families about all aspects of the neuromuscular disease. “Our motto is ‘leave no boy behind,’ so we want to make sure we have a…

All three children with limb girdle muscular dystrophy type 2E (LGMD2E) treated with the investigational gene therapy MYO-101 in a clinical trial showed marked production of beta-sarcoglycan, the missing protein in the disease, according to Sarepta Therapeutics. LGMD2E, also known as beta-sarcoglycanopathy, is caused by mutations in the SGCB gene,…