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Research Grant Awarded

 Posted on September 29, 2019 by jmarsz

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The AHC Foundation is pleased to announce the funding of important research at Northwestern and Vanderbilt Universities. A continuation of important work supported by the AHCF, Dr. George and Dr. Ess will lead their teams in collaboration toward NIH funding.
 
There remains much more work needed to fully understand the fundamental defects responsible for AHC at the molecular and cellular levels. Researchers at Vanderbilt and Northwestern Universities are using induced pluripotent stem cells (iPSCs) derived from children with AHC to generate neurons. These AHC patient neurons are being used to answer two important unanswered questions about the disease:
1) Is the fundamental mechanism in AHC that of haploinsufficiency or involve dominant-negative effects?
2) Do ATP1A3 mutations associated with distinct clinical disorders exhibit functional differences at the molecular and cellular level?
The answers to these two questions will guide how future therapies, including gene therapy, need to work in order to correct the underlying molecular and cellular defects in AHC. The unique iPSC models developed by this research team will also enable testing of therapies for both common and less common ATP1A3 mutations to ensure that new therapies will benefit all persons with AHC.
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