17th 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 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, which provides great therapeutic possibility. Families of SMA (FSMA) has sponsored the International SMA Research Group Meeting for 17 years. In 2013 the conference will be held from June 13 to June 16 in Anaheim, CA at the Disneyland Hotel. It is currently the largest annual research conference for SMA worldwide with over 200 attendees each year. Numerous basic researchers and clinicians attend the conference, and in recent years industrial researchers have attended in growing numbers. This allows for cross talk among various scientific disciplines. 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 Our overall meeting goal is to provide a forum for SMA experts from around the world to share unpublished data, engage in open communication, and foster collaboration. In recent years, a growing drug pipeline has emerged for SMA with about a dozen drug programs in various stages of drug development. More communication among scientist should accelerate the pace of SMA research and hasten identification of an FDA-approved treatment for this devastating disease. Conference presentations are organized into 3 major areas: clinical research, basic research, and translational research. This allows for dialogue among experts from distinct scientific disciplines, which is key to therapy development. In addition, a major focus of the 2013 meeting will be a special session on Enhancing the Predictive Ability of Preclinical Drug Studies for SMA. As the SMA research community begins to focus more on drug development, it is critical to strategize on the best way to conduct preclinical drug testing in order to maximize the possibility of human efficacy in future SMA drug trials. 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 the SMA research community. It also includes new biotech and pharmaceuticals companies working on SMA, which helps to integrate them more quickly into the SMA community.