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Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades. The discovery suggests a new way to treat SMA-;a devastating childhood…
The androgen receptor is a key transcriptional factor for the proper sex development —specially in males— and the physiological balance of all the tissues that express this receptor. The androgen receptor is involved in several pathologies and syndromes, such as…
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. This builds on the…
A prescription drug that helps Lore Wilkinson walk and talk despite a rare muscle disease cost her so little for more than a decade that she didn’t even use her insurance to pay for it. But now, her Medicare insurance…
Scientists from Tokyo Metropolitan University have discovered that a protein called platelet-derived growth factor subunit B (PDGF-B) is continuously secreted from skeletal muscle cells and helps to repair muscles by encouraging myoblasts (muscle stem cells) to proliferate. Unexpectedly, they found…
Adopting some of the strategies behind successfully treating the childhood disease spinal muscular atrophy may enable development of therapies to curb the muscle decline that accompanies aging, new research suggests. At the heart of both disorders is the survival motor…
Researchers from Tokyo Metropolitan University have developed a way to characterize the force generated by contracting myotubes, precursors to skeletal muscle fiber, combining electrostimulation and analysis of wrinkles in the silicone substrate on which they are mounted. Existing methods rely…
