The VICC.ORG Directory of Doctors, Healthcare Providers & Researchers

Alfred L. George, Jr., M.D.

Grant W. Liddle Professor of Medicine (Genetic Medicine)
Director, Division of Genetic Medicine
Associate Chairman for Science Education
VICC Member

Contact Information:

Vanderbilt University Medical Center
529 Light Hall
Nashville, 37232-0275

Research Specialty

Identification and characterization of human ion channel mutations

Research Description

Ion channels have an essential role in many diverse physiological processes. In muscle and heart, the generation and propagation of action potentials and ultimately the development of contraction are dependent upon a coordinated series of ion channel events. We are 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.


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