The AHCF Board is pleased to announce that we have awarded the following grant to Vanderbilt University
2013Molecular Physiology and Pharmacology of ATP1A3 Mutations in AHC
$169,154 grant awarded to Dr. Alfred George, Jr. and Dr. Kevin Ess at Vanderbilt University to determine the functional and biochemical consequences of the three most common gene mutations causing AHC, to identify drugs or drug-like compounds capable of restoring normal gene function, and to investigate the electrophysiological properties of human neurons generated from induced pluripotent stem cells derived from AHC patients.
Quote from Dr. George:‘We are honored to work with the Foundation and its membership to help understand the basis for AHC and to seek new treatment strategies. This very generous donation will enable us to determine how ATP1A3 mutations cause AHC and to find pharmacological strategies to correct the defect. While animal research is always very important, this work will use human neurons generated from patients with AHC.