Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease that leads to motor dysfunction and death. It affects one of 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, although researchers have suggested that it is one of the neurological diseases closest to a treatment. This is due to the unique presence of a back-up gene called SMN2, providing great translational possibility. For the past 13 years, Families of Spinal Muscular Atrophy (FSMA) has sponsored the Annual International SMA Group Meeting, the only open conference entirely dedicated to SMA research. In 2010 the conference will be held June 24 - 26in the Santa Clara Marriott in Santa Clara, California. Since its inception, the meeting has grown from 40 attendees to almost 250 in 2009. It is currently the largest research conference for SMA worldwide. The conference is held simultaneously with the FSMA Families &Professional Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. At FSMA we believe that bringing together the leading SMA research experts from around the world to share unpublished data, engage in open communication, and foster collaboration will greatly enhance the pace of SMA research, leading to a treatment for this devastating disease. Thus, the overall goal for our research meeting is providing a forum for the exchange of new and unpublished data at an early point in the research process to impact productive collaboration. To achieve this, FSMA has organized the conference to be 100% open with scientists from across the world welcome to attend. As the only open conference dedicated to SMA, it is the one venue where the entire SMA community can share data and information on an annual basis. Also to achieve meaningful communication, participants are specifically instructed to present only new, unpublished data. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. In 2010, the conference will feature a new special session that focuses on translating candidate SMA therapies from laboratory discoveries to Investigational New Drug (IND) applications to the FDA. A secondary meeting goal is to bring new researchers into the SMA community, including those located internationally. This is the only SMA focused conference that encourages attendance / presentation by post-doctoral fellows and graduate students, rather than just having PI participation. This is an essential aspect of the meeting as it helps build the future of the SMA research community.
Narrative Spinal Muscular Atrophy (SMA) is a neuromuscular disease affecting 1 in 6000 live births. It is the leading genetic killer of children under 2 years of age. SMA is caused by mutations in the SMN1 gene, which is deleted in over 90% of patients. Currently there is no treatment for SMA. Therefore, SMA results in a large unmet medical need throughout the world. Researchers have suggested that SMA is one of the neurological diseases closest to finding a treatment. This is due to the unique presence of a back-up gene for SMA called SMN2, providing great therapeutic possibility for the disease. Very few other diseases have such an obvious route for drug therapy. Bringing together the leading SMA research experts from around the world to share unpublished data and promote open communication and collaboration greatly quickens the pace of SMA research that will lead to a treatment for this devastating disease. Importantly, a major focus of the 2010 meeting will be special session on how to progress candidate SMA therapies from the research laboratory to the filing of an Investigational New Drug (IND) application to the FDA to begin human testing.