
Dr. Al George is one of the investigators in the
project. Primary responsibilties include genotyping DNA samples.
Dr. George's lab is currently investigating the
role of genetic mutations in specific ion channel genes in the
molecular pathogenesis of certain hereditary disorders of striated
muscle and neuronal excitability. Included in this research program
is work aimed at identifying and functionally characterizing disease-producing
point mutations in human voltage-dependent sodium channels, and
human chloride channels. These investigations have yielded considerable
new knowledge regarding the structure and function of ion channels
as well as providing molecular and biophysical explanations for
several interesting phenotypes including periodic paralysis, various
forms of inherited myotonia, congenital long QT syndrome, and
certain types of familial epilepsy. This work requires the use
of molecular biological and molecular genetic techniques as well
as in vitro expression studies and electrophysiology
Complete
Information
Lab URL: http://dna.mc.vanderbilt.edu
|