A new research mouse may speed development of treatments for McArdle disease, and a conference this August will focus on several glycogen storage diseases
New research mouse mimics McArdle disease
Scientists in Spain have developed mice with a disorder that closely resembles the human metabolic muscle disorder known as McArdle disease (also called phosphorylase deficiency, myophosphorylase deficiency and glycogenosis type 5). The mice are expected to speed testing of treatments for this disorder.
Genetically corrected human stem cells help mice with a disease resembling limb-girdle MD; cell membrane sealants are being studied in Duchenne and other forms of muscular dystrophy
LGMD2D mice benefit from corrected human stem cells
A multinational team of scientists successfully transplanted genetically corrected muscle stem cells derived from people with type 2D limb-girdle muscular dystrophy (LGMD2D) into LGMD2D research mice and saw better muscle function in these mice than in similar mice that didn't receive the cells.
Researchers are pursuing several strategies to identify or modify stem cells that can be used to repair damaged muscle fibers
Update (July 10, 2012) — This story was updated to reflect the availability of a podcast with MDA research grantee Emanuela Gussoni, who discusses the development of stem-cell-based treatments for muscular dystrophies.
Top researchers are discussing notable developments in neuroscience, including research in many neuromuscular diseases, at the annual American Academy of Neurology meeting April 21-28
Top scientists and clinicians from around the world are discussing the latest research in neuroscience, and the care of individuals with nerve and muscle diseases, at the 2012 annual meeting of the American Academy of Neurology in New Orleans, April 21-28.
In this first of several reports on MDA's Clinical Conference, the role of genetics and immunology in different neuromuscular diseases is described
More than 500 physicians, allied health care professionals and MDA staff attended the MDA's 2012 Clinical Conference in Las Vegas, March 4-7.
The program emphasized:
The shorter-than-normal dystrophin protein produced via an experimental exon-skipping drug allows proper localization of proteins at the muscle-fiber membrane
Shortened versions of the muscle protein dystrophin — produced by skipping a section of genetic instructions called exon 51 — appear to be functional, says a new report from the United Kingdom.
The pace of research can seem unreasonably slow; here are a few reasons why
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...