The struggle to fund research never ends; so many of those years were in the dark, but the AHC Foundation has continued plugging awa. Research is now targeted, with direction, and there is an exponential increase in interest the last five years. 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.
Alternating Hemiplegia of Childhood (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 completion of the 6th phase, “Molecular Physiology and Pharmacology of ATP1A3 mutations in AHC”. The project builds upon previous work that studied the functional impact of the 3 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.
Secondly, cutting edge genetic engineering techniques intend to either introduce or correct ATP1A3 mutations in human neurons. This will include rigorous testing of the most common ATP1A3 mutations on neuronal physiology. Additionally, 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.
Contributions from those within the community 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 young and old.
For those who wish to contribute, donations can be made here: https://www.firstgiving.com/AHCF/step-up-to-end-ahc-2017