Tuesday, September 16, 2014



An international team of researchers has identified a new inherited neuromuscular disorder. The rare condition is the result of a genetic mutation that interferes with the communication between nerves and muscles, resulting in impaired muscle control.

The new disease was diagnosed in two families – one in the U.S. and the other in Great Britain – and afflicts multiple generations. The discovery was published  in the American Journal of Human Genetics.

“This discovery gives us new insight into the mechanisms of diseases that are caused by a breakdown in neuromuscular signal transmission,” said David Herrmann, a professor in the Department of Neurology at the University of Rochester School of Medicine and Dentistry and co-lead author of the study. “It is our hope that these findings will help identify new targets for therapies that can eventually be used to treat these diseases.”

Source and further reading:
Animation: 3D nervature via anatomium

Care about research like this? tell Congress to finish what it started and pass the FY 2015 Labor-HHS spending bill now to restore sequestration cuts so that the promise of National Institutes of Health (NIH)-sponsored research can be realized.
corina marinescu

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