Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. It affects one in 6000 babies born and is the leading genetic killer of children under two years of age. The molecular basis of the disease is a deficiency in production of a specific protein - Survival of Motor Neuron (SMN) protein. Motor neuron function is sensitive to lowered SMN protein levels, and this cellular defect leads to the loss of muscle function in the limbs, neck, and chest in these patients. Currently there is no treatment for SMA. Researchers have suggested that it is one of the neurological diseases closest to treatment, due to the unique presence of a back-up gene called SMN2 that provides great therapeutic possibility. Families of SMA (FSMA) have sponsored the International SMA Research Group Meeting for 18 years. In 2014 the conference will be held from June 12 to June 14 at the Gaylord Hotel in National Harbor. It is currently the largest annual research conference for SMA worldwide with about 225 attendees each year. Basic researchers, clinicians, and industrial researchers all attend the conference, allowing for cross-disciplinary dialogue. Also, the meeting is held simultaneously with the FSMA-hosted SMA Family Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. Our overall meeting goal is to provide a venue for SMA experts from around the world to share unpublished data and develop scientific collaborations. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. Communication among researchers from these different scientific disciplines should help accelerate the pace of SMA research and hasten the identification of an FDA- approved treatment for this devastating disease. A major focus of the 2014 meeting will be a special session on "Moving beyond SMN? Strategies to Identify Non-SMN Drug Targets for Spinal Muscular Atrophy". There are now over a dozen drugs in the SMA drug pipeline, with the majority focused on SMN enhancing therapies. A major goal for Families of SMA is to ensure therapies are developed to treat all types of SMA and at every stage of disease progression. Thus, it remains critical for the SMA research community to consider whether this approach will be viable for all types and stages of SMA and whether additional molecular approaches should also be pursued for the treatment of SMA. Finally, an important secondary goal for the meeting is to introduce new researchers to the SMA research community. This includes scientists in training, which helps to build the future of our research community. It also includes companies newly working on SMA drug development, which helps these groups integrate more quickly.

Public Health Relevance

Spinal Muscular Atrophy (SMA) is a neuromuscular disease affecting one in 6000 live births. It is the leading genetic killer of children under two years of ge. SMA is caused by mutations in the SMN1 gene, which is deleted in over 95% of patients. Currently there is no treatment for SMA, resulting in a large unmet medical need throughout the world. Researchers have suggested that SMA is one of the neurological diseases closest to treatment. This is due both to the genetic homogeneity of the disease and the presence of a back-up gene called SMN2. This provides great therapeutic possibility for the disease, with few other diseases having such an obvious route for drug therapy. For the past 18 years, Families of SMA has hosted the Annual International SMA Research group meeting. It is now the largest SMA research conference in the world with about 225 attendees each year. Our overall meeting goal is to provide a venue for SMA experts from around the world to share unpublished data and develop scientific collaborations, which should hasten the identification of a treatment for SMA. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. This is key because communication among researchers from these different scientific disciplines is critical for therapy development. Moreover, a major focus of the 2014 meeting will be a special session on Moving beyond SMN? Strategies to Identify Non-SMN Drug Targets for Spinal Muscular Atrophy. There are now over a dozen drugs in the SMA drug pipeline, with the majority focused on SMN enhancing therapies. A major goal for Families of SMA is to ensure therapies are developed to treat all types of SMA and at every stage of disease progression. Thus, it remains critical for the SMA research community to consider whether the SMN enhancing approach will be viable for all types and stages of SMA and whether additional molecular approaches should also be pursued for the treatment of SMA. Finally, eight additional conference sessions on the newest findings in SMA basic research, in clinical research, and in drug development will also be held.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Conference (R13)
Project #
1R13NS089175-01
Application #
8783928
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Program Officer
Porter, John D
Project Start
2014-06-06
Project End
2015-05-31
Budget Start
2014-06-06
Budget End
2015-05-31
Support Year
1
Fiscal Year
2014
Total Cost
$40,000
Indirect Cost
Name
Families of Spinal Muscular Atrophy
Department
Type
DUNS #
053587361
City
Libertyville
State
IL
Country
United States
Zip Code
60048