Development and Function of Neuromuscular Synapses
Understanding how signals are exchanged at neuromuscular synapses is fundamental to understanding the principles that govern the formation and function of synapses in the peripheral and central nervous systems (CNS). The discovery of genes critical for forming and maintaining neuromuscular synapses has not only provided insight into the normal mechanisms for synapse formation but also led to the identification of genes that are responsible for congenital myasthenia and for understanding how mutations in these genes lead to deficits in neuromuscular function. Further, because key molecules that direct the formation and maintenance of neuromuscular synapses are expressed in the CNS, understanding how neuromuscular synapses form and work may serve as a paradigm for understanding synapse formation in the less tractable CNS. Our lab uses multiple approaches, including molecular genetics, biochemistry and structural biology to understand how neuromuscular synapses form during development and how synapses are maintained and stabilized in adults. Moreover, we study the causes for neuromuscular diseases, including congenital myasthenia, myasthenia gravis and ALS, and we are using this knowledge to devise therapeutic strategies for these diseases.