When you support the Step Up to End AHC campaign, you are helping the AHCF achieve its mission to fund research, promote year-round education, and provide families with much needed support. All of your efforts will directly affect the future of every person living with AHC.
AHC is a rare neurological disorder in which unpredictable attacks of paralyzing hemiplegia occur. It ranges from simple numbness in an extremity to full loss of feeling and movement. The attacks may last for minutes, hours or even days.
This year’s campaign is to support two projects. The first is, the second half of the 6th phase, “Molecular Physiology and Pharmacology of ATP1A3 mutations in AHC”. The project builds upon their previous work studying the functional impact of the three most common mutations in the ATP1A3 gene. This will include testing the ability of several compounds identified through computer modeling to restore pump function. They will also use human stem cells that were differentiated into neurons to study electrophysiological dysfunction as well as the possible reversal of these abnormalities by treatment with candidate compounds.
Finally they propose to use cutting edge genetic engineering techniques to either introduce or correct ATP1A3 mutations in human neurons. This will also include rigorous testing of the most common ATP1A3 mutations on neuronal physiology. In addition, the campaign will also support the Antibody Acceleration Project. Dr. Kevin Ess and his team at Vanderbilt University are at the half way point of generating and validating highly specific antibodies targeting against the alpha 3 and alpha 2 subunits of the Na/KATPase. These antibodies will not only support the work that Dr. Ess and Dr. George are doing but will be shared with the any researcher who is working on AHC/RDP and CAPOS, all with the ATP1A3 mutation.
Your contributions can help create treatments for AHC episodes, prepare our community for clinical drug trials and develop tools to improve the quality of life of all AHC patients.
Please feel free to send the link out to your FRIENDS, FAMILY and COLLEAGUES -- anyone who can would like to help the AHC community.
Your generosity will allow us to take the steps needed to END AHC!