Mouse Models of Heritable Peripheral Neuropathy, Genes, Mechanisms and Therapeutic Possibilities

Dr. Burgess’ research program is focused on the molecular mechanisms of neuronal synapse formation and maintenance using genetic approaches in mice.  The preferred systems for these studies are the retina and the neuromuscular junction, which has been a focus of Dr. Burgess’ research since beginning a genetic analysis of Agrin as a postdoctoral fellow.  Since becoming an independent investigator in 2001, Dr. Burgess has used forward genetic approaches in mice, combined with transgenic and knockout strategies, to study a number of genes involved in the development of the retina and the neuromuscular system.

In 2006 the Burgess lab reported a mouse model of Charcot-Marie-Tooth type 2D (CMT2D), an axonal peripheral neuropathy caused by mutations in glycyl tRNA synthetase (GARS).  The Burgess lab has since become very involved in the development and characterization of related neuromuscular disease models, and particularly peripheral neuropathy models in mice involving tRNA synthetase genes and congenital myasthenias.  Integrating our results in mouse genetics with external efforts in human genetics is a primary focus of the research and the validation of human disease genes and the generation of valid animal models of neuromuscular diseases is central to this effort.