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AHCF funds next phase of Vanderbilt Grant

 Posted on November 5, 2014 by jmarsz

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2014 Molecular Physiology and Pharmacology of ATP1A3 Mutations in AHC Christine Simmons lab#2The Alternating Hemiplegia of Childhood Foundation is pleased to announce that we have partially funded phase three of a research grant awarded to Dr. Kevin Ess at Vanderbilt University and Dr. Alfred George, Jr. at Northwestern University in the amount of $140,807.00.  They will continue their work to determine functional and biochemical consequences of the three most Ess:Simmons in lab#1common gene mutations causing AHC. They will also continue to identify drugs or drug-like compounds through a drug screening program that are capable of restoring normal ATP1A3 gene function. Finally, they have made induced pluripotent stem cells (iPSCs) derived from AHC patients.  These again include the three most common gene mutations causing AHC.  These patient derived stem cells will be used to investigate electrophysiological abnormalities of neurons and to test whether compounds they have identified can restore ATP1A3 function in human cells. The second half of phase three is due to be awarded in January, 2015. To date we have invested $404,496.00 and continue to explore all avenues of funding to avoid a cessation of the research that is drawing us ever closer to a viable treatment. Quote from Dr. Ess: Ess lab #3‘We are extremely honored to continue our work with the Foundation and its membership. This is a very exciting phase of discovery for everyone connected to AHC and is critical to expand our knowledge of ATP1A3 function and to seek new treatment strategies. The very generous donation by the AHCF will enable us to determine mechanisms used by specific ATP1A3 mutations that cause AHC. We will continue our success from last year by identifying novel potential drug therapies that can correct the defect caused by specific ATP1A3 mutations. Notably, we are using human cell lines including induced pluripotent stem cells (iPSCs) that harbor ATP1A3 mutations. Our experiential approach was designed to most quickly identify disease pathways as well as potential therapeutics that can help those afflicted with AHC.    
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 Category: Current Grants, Foundation Updates, News      Tags:

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