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.
Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.
The study also is recruiting 30 adults with no neuromuscular disease.
Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).
A research group has identified specific mutations in a gene on chromosome 15 called KBTBD13 that cause a type of nemaline myopathy (NM), a disease in which thread- or rod-like ("nemaline") material forms clumps in affected muscle.
The newly identified mutations cause type 6 NM. A number of mutations in genes associated with other subtypes of the disease already have been identified.