Background: Biogen is developing a suite of Digital Outcome Assessments (DOAs), KonectomTM NMD, intended to be used as self-assessment tools to objectively quantify the motor […]
Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are serious neuromuscular disorders that occur in 1 in 11,000 live births and 1 in 6,000 […]
Mutations in the IGHMBP2 gene lead to a spectrum of rare, autosomal recessive diseases characterized by degeneration of ?-motoneurons and ganglion cells. Patients present with […]
Autosomal recessive mutations in IGHMBP2, a ubiquitously expressed DNA/RNA helicase, have been linked to childhood neuromuscular degenerative diseases (NMDs). C57BL/6J-Ighmbp2em3Cx is a SMARD1-like strain, or […]
CRISPR/Cas9 gene editing holds promise for a broad range of genetic diseases. For Duchenne Muscular Dystrophy (DMD), delivery of gene editing machinery to both the […]
"Using Aro’s proprietary Centyrin technology, we have demonstrated potent functional delivery of siRNA oligonucleotides into skeletal and heart muscle while sparing knockdown in other tissues. […]
Patients with myotonic dystrophy, type 1 (DM1) suffer from cognitive deficits and muscle pathology caused by a trinucleotide expansion in the DMPK gene. Initial studies […]
Initial studies using a PATrOL™ platform-enabled peptide nucleic acid (PNA) pharmacophore combined with a novel delivery technology in transgenic animal models demonstrated pharmacologic activity in […]
Exon-skipping Phosphorodiamidate Morpholino Oligomers (PMO) remain one of the few approved treatments for patients with Duchenne Muscular Dystrophy (DMD) that have been shown to increase […]