AHCF funds next phase of Vanderbilt Grant

2014 Molecular Physiology and Pharmacology of ATP1A3 Mutations in AHC

The Alternating Hemiplegia of Childhood Foundation is pleased to give out that we have partially funded phasis three of a research grant awarded to Dr. Kevin Ess at Vanderbilt University and Dr. Alfred George, Jr. at Northwestern University in the total of $140,807.00.  They command continue their work to determine functional and biochemical consequences of the three most general gene mutations causing AHC.Ess:Simmons in lab#1 They direct also continue to identify drugs or medicine-like compounds through a drug screening program that are gifted of restoring normal ATP1A3 gene performance. Finally, they have made induced pluripotent lookout cells (iPSCs) derived from AHC patients.  These afresh include the three most common gene mutations causing AHC.  These diligent derived stem cells will be used to search into electrophysiological abnormalities of neurons and to criterion whether compounds they have identified have power to restore ATP1A3 function in human cells.

The abet half of phase three is to be paid to be awarded in January, 2015. To epoch we have invested $404,496.00 and keep on to explore all avenues of funding to avoid a cessation of the research that is draining us ever closer to a viable handling.

Quote from Dr. Ess:

Ess lab #3‘We are extremely honored to continue our work with the Foundation and its body of members. This is a very exciting appearance of discovery for everyone connected to AHC and is carping to expand our knowledge of ATP1A3 derivative and to seek new treatment strategies. The to a high degree generous donation by the AHCF direct enable us to determine mechanisms used ~ the agency of specific ATP1A3 mutations that cause AHC. We be inclined continue our success from last year ~ dint of. identifying novel potential drug therapies that be able to correct the defect caused by peculiar ATP1A3 mutations. Notably, we are using human elementary corpuscle lines including induced pluripotent stem cells (iPSCs) that cover ATP1A3 mutations. Our experiential approach was designed to greatest number quickly identify disease pathways as well taken in the character of potential therapeutics that can help those afflicted through AHC.

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