Neuromuscular Junction Diseases

Below are brief reports and links to more information about neuromuscular disease research presented at the 63rd annual meeting of the American Academy of Neurology (AAN), held in Honolulu April 9-16, 2011.

Moving therapeutic strategies from the laboratory to clinical trials and ultimately to the market as treatments was the theme of the MDA National Scientific Conference held March 13-16, 2011, in Las Vegas.

Some 300 people attended the conference, the first in a planned series of such MDA-sponsored meetings that will emphasize new research and current medical care. The majority of presenters and many of the audience members were current or former MDA research grantees or physicians at MDA-supported clinics.

MDA’s translational research program has announced it is funding research into a potential treatment for the autoimmune disorder myasthenia gravis (MG).

The grant of $530,480 to University of Illinois-Chicago professor Matthew Meriggioli will fund a three-year study of an immune system modulator called GM-CSF. The compound will be tested in a mouse model of MG and in a small group of human subjects.

Congenital myasthenic syndromes

A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).

Charcot-Marie-Tooth disease

The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association’s program.

The new grants were reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Duchenne muscular dystrophy

MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases. 

MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the disease. The effective start date for all grants was July 1, 2010.

In recognition of June being National Myasthenia Gravis Awareness Month, Quest News Online is examining the disease from several perspectives. This article offers an overview of signs, symptoms, diagnosis and treatments for myasthenia gravis (MG), as well as some drugs for people with MG to avoid.