Mutation analysis of novel candidate genes for X-linked Charcot Marie Tooth (CMTX3) neuropathy. [ 2008 - 2009 ]

Research Grant

Researchers: A/Pr Marina Kennerson (Principal investigator) ,  Prof Garth Nicholson

Brief description Our goal is to explore how peripheral nerves degenerate by identifying the gene mutation causing an X linked form of Charcot Marie Tooth neuropathy (CMTX3). Using bioinformatic resources and state of the art gene mutation scanning we will complete characterisation and systematic screening of candidate genes and novel transcripts in the region. Discovery of this gene will provide a means to determine mechanisms causing axonal degeneration and lead to targeted therapeutic treatment strategies.

Funding Amount $AUD 191,434.70

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant