Duchenne muscular dystrophy (DMD) is a progressive muscle disorder that causes the loss of both muscle function and independence. DMD is perhaps the most prevalent of the muscular dystrophies and is the most common lethal genetic disorder diagnosed during childhood today. Each year, approximately 20,000 children worldwide are born with DMD (one of every 3,500 male children).
University of California, Irvine researchers have identified a gene expressed during regeneration that is critical for muscle repair.
Critical Path Institute (C-Path) is pleased to announce the release of a new peer-reviewed publication, titled "Transforming Drug Development for Neurological Disorders: Proceedings from a Multi-disease Area Workshop," now published in Neurotherapeutics, The Journal of the American Society for Experimental Neurotherapeutics.
A new drug developed by professors from the School of Pharmacy and Pharmaceutical Sciences at Binghamton University has received Food and Drug Administration (FDA) approval for the treatment of patients with Duchenne muscular dystrophy (DMD), a common genetic disease that mostly affects young boys.
Boys with Duchenne muscular dystrophy (DMD) have a clinically proven, new treatment option with the Food and Drug Administration's approval Thursday of vamorolone, a steroidal-type, anti-inflammatory drug developed based on research performed at Children's National Hospital.
Researchers evaluated the use of a dual clustered regularly interspaced short palindromic repeats (CRISPR)-Cas3 system.
The pathomechanistic connection between autism and myotonic muscular dystrophy type 1.
Critical Path Institute's (C-Path) Duchenne Regulatory Science Consortium (D-RSC) and the Duchenne Data Foundation (DDF) are excited to announce a joint collaboration aimed at advancing research and improving healthcare for individuals with Duchenne muscular dystrophy (DMD) and other dystrophinopathies (conditions linked to mutations in the DMD gene).
In a landmark moment for the Abigail Wexner Research Institute at Nationwide Children's, a 5-year-old from Bellefontaine, Ohio, received the first dose of a recently approved gene therapy for Duchenne muscular dystrophy at Nationwide Children's Hospital, where the therapy was invented and initially tested.
The group of LMU scientist Eckhard Wolf has developed a porcine DMD model with a mutation, which mimics the hallmarks of the human disease but develops them in an accelerated mode.
Alternative splicing, a clever way a cell generates many different variations of messenger RNAs -; single-stranded RNAs involved in protein synthesis -; and proteins from the same stretch of DNA, plays an important role in molecular biology.
A team of researchers at the University of Houston College of Pharmacy is reporting that by manipulating TAK1, a signaling protein that plays an important role in development of the immune system, they can slow down disease progression and improve muscle function in Duchenne muscular dystrophy (DMD).
Muscles that ache after a hard workout usually don't hurt for long, thanks to stem cells that rush to the injured site along "collagen highways" within the muscle and repair the damaged tissue.
In a new study published in The FASEB Journal, investigators demonstrated the potential of a molecule that may help overcome some of the devastating symptoms of Duchenne muscular dystrophy (DMD), the most common life-limiting congenital neuromuscular disorder.
A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.
The Oxford-Harrington Rare Disease Centre, a partnership of the University of Oxford and Harrington Discovery Institute at University Hospitals, is hosting a virtual event on Monday, Feb. 27, 2023, in honor of the upcoming Rare Disease Day, which is celebrated across the globe on February 28 every year.
A multi-disciplinary team of researchers has developed a way to monitor the progression of movement disorders using motion capture technology and AI.
Editing a gene that prompts a cascade of damage after a heart attack appeared to reverse this inevitable course in mice, leaving their hearts remarkably unharmed, a new study by UT Southwestern scientists showed.
Using the CRISPR-Cas9 gene editing system, UT Southwestern researchers corrected mutations responsible for a common inherited heart condition called dilated cardiomyopathy (DCM) in human cells and a mouse model of the disease.
Scientists have identified a handful of gene mutations that cause or contribute to the onset of Alzheimer's disease.
Duchenne muscular dystrophy (DMD) is caused by a genetic mutation and affects one in every 5,000 boys born. Because the affected gene is on the X chromosome, girls are carriers of the mutant gene but develop the disease only very rarely (one in about 50 million).