genome sequencing

This first of a series of three stories covering the 2014 MDA Clinical Conference discusses implications of new types of genetic testing

posted on March 28, 2014 - 10:57am
“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

A competition to identify and explain genetic mutations using genome sequencing has solved an 11-year mystery for the family of a boy with centronuclear myopathy

posted on November 20, 2012 - 5:00am
Update (Oct. 1, 2013): For more about the titin gene and CNM, see Titin Mutations Can Cause CNM, posted Sept. 23, 2013.