Grant: Emerging Team Grant: From Genes to Proteins, Cells, Tissues and Patients - LOI

Loss of a protein named SMN, for ¿Survival of Motor Neurons¿, causes spinal muscular atrophy, a disease that affects 1 in every 10,000 newborns and is the leading genetic cause of infant death. SMA results in the massive loss of spinal cord motoneurons, which are the cells responsible for voluntary movements. Research in recent years has identified an essential function for the SMN protein, that should be equally important for all cells in the body. Hence, it remains a major challenge in the field to rationalize how loss of SMN can result in a motoneuron-specific disease. Our current research strategy will use novel state-of-the-art approaches to identify the proteins that interact specifically with SMN in motoneurons. Identification of novel components of the SMN complex may provide crucial insights into the function of SMN that is important for motoneurons and to the etiology of SMA. Furthermore, proteins found to be misregulated in SMA cells may constitute new targets for the development of novel strategies for therapeutic intervention.