CMT2D
The CMT 2D locus is on chromosome 7p14 and the genetic cause has been identified as mutations in the glycyl RNA synthetase gene. CMT 2D is a confusing disorder because some patients have sensorimotor neuropathies, while others have only motor symptoms.
Below we share with you the research projects the CMTA is currently funding as well as a description of the remarkable STAR Biotech Alliance Partners with whom we collaborate to advance research for CMT.
View the projects currently active or recently completed in the CMT2D drug development pipeline.
PROJECT GOAL: TESTING HDAC6 INHIBITORS
Grant Amount: $44,507
Principal Investigator: Robert Burgess, PhD, The Jackson Laboratory
PROJECT GOAL: INHIBITION OF SARM1 IN 1A, 1X, 2E, 2D, 2S
Grant Amount: $110,000
Principal Investigator: Robert Burgess, PhD, The Jackson Laboratory
PROJECT GOAL: ESTABLISHING HUMAN-CELL BASED MODELS OF tRNA SYNTHETASE-ASSOCIATED CMT DISEASE
Grant Amount: $10,000
Principal Investigator: Timothy Hines, PhD, The Jackson Laboratory
The primary goal of this project is to uncover the cellular mechanisms underlying CMT disease caused by mutations in aminoacyl tRNA synthetases in order to identify therapeutic strategies.
Read about the Patients as Partners in Research Initiative ⟶