15th Annual International Spinal Muscular Atrophy Research Group Meeting

Families Of Spinal Muscular Atrophy, Elk Grove Village IL

Investigators

Abstract

DESCRIPTION (provided by applicant): 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 treatment, due to the unique presence of a back-up gene called SMN2, providing great therapeutic possibility. For the past 14 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 2011 the conference will be held June 23 - 25in the Swan and Dolphin Hotel in Orlando, Florida. Since its inception, the meeting has grown from 40 attendees to over 200 in 2010. It is currently the largest SMA research conference worldwide. The conference is held simultaneously with the FSMA Families and Professional Conference, providing researchers a unique opportunity to interact with the SMA patients they are dedicated to helping. FSMA believes providing a forum for SMA experts from around the world to share unpublished data, engage in open communication, and foster collaboration will greatly enhance the pace of SMA research, leading to a treatment for this devastating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. To achieve this, FSMA has organized the conference to be 100% open with all scientists welcome to attend. As the only open conference dedicated to SMA, it is the one venue where the entire SMA community can consistently share information on an annual basis. To achieve meaningful communication, participants are instructed to present only new, unpublished data. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research, allowing for cross-disciplinary dialogue. In 2011, the conference will also feature a special session, focusing on Comparative SMA Pathology in Mice and Man with Therapeutic Implications. This is a timely topic, as several recent publications suggest possible extra-neuronal phenotypes in SMA, which is typically considered primarily as a motor neuron disease. Understanding exact disease pathology will help researchers develop more targeted and effective drugs. A secondary meeting goal is to introduce new researchers into the SMA community, including those located internationally. Also, this is the only SMA focused conference that encourages attendance / presentation by post-doctoral fellows and graduate students, rather than just PI participation. This critical aspect of the meeting helps build the future of the SMA research community. 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 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. A major focus of the 2011 meeting will be a special session on Comparative SMA Pathology in Mice and Man with Therapeutic Implications. Understanding the exact defects underlying SMA will allow for more targeted and efficient therapy development.