Henk Granzier, a professor of molecular and cellular biology, physiology and biomedical engineering at the University of Arizona in Tucson, has been awarded an MDA research grant totaling $253,800 over three years to study how lower than normal levels of a protein called nebulin affect muscle cells. Nebulin deficiency is the underlying cause of one type of nemaline myopathy. Granzier and colleagues have developed nebulin-deficient mice that develop a disorder resembling human nemaline myopathy.
“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.
Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.
A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.
The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.
MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Feb. 1.
MDA leads the search for treatments and therapies for inherited and endocrine myopathies. The Association also provides comprehensive supports and expert clinical care for those living with inherited and endocrine myopathies.
In this section, you’ll find up-to-date information about inherited and endocrine myopathies, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.