The National Institute of Neurological Disorders and Stroke will provide four years of funding, totaling $1,219,140, to The Jackson Laboratory to develop mouse models for inherited peripheral neuropathies and neurodegenerative diseases including Charcot-Marie-Tooth disease (CMT).
In peripheral neuropathies, the junctions between muscles and the peripheral nerves — the bundles of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs — degenerate over time. Symptoms of CMT and other peripheral neuropathies vary in severity, but there are currently no treatments or cures.
According to JAX Professor Robert Burgess, Ph.D., who studies CMT, a lack of clinically relevant animal models is hampering the development of new treatments for peripheral neuropathies. “Thanks to new diagnostic tools, about 80 human CMT disease mutations have been identified, but most do not yet have a mouse model to investigate the disease mechanisms.”
To remedy this problem, the new grant establishes the JAX Resource for Research of Peripheral Neuropathy to accelerate the creation, distribution and use of high-priority mouse models for CMT research. Burgess, JAX Mouse Repository Director Cathleen Lutz, Ph.D., and Research Scientist Kevin Seburn, Ph.D., are the principal investigators of the grant.
“This resource is a coordinated, community-driven effort,” Lutz says, “that leverages JAX’s world-leading knowledge of mouse genetics, state-of-the-art genome editing capability, decades of experience in disease model development and experience with effective disease model repositories.”
The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, Maine, with a National Cancer Institute-designated Cancer Center, a facility in Sacramento, Calif., and a genomic medicine institute in Farmington, Conn. It employs 1,800 staff, and its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.
Grant Number: 1R24NS098523-01