Vanderbilt Progress report – July 2014
July 2014 progress report from Vanderbilt – Click here for the full report Ess-George July 2014 Progress Report AHCF
Vanderbilt interim Research report January/2014
Vanderbilt continues to make progress. Click here to read the latest update Vanderbilt Interim progress reportJan 2014
Vanderbilt Research Update 10/2013
Read about the progress of the Vanderbilt research from the grant funded by AHCF….We made substantial progress toward completing the goals of Specific Aims 1 and 3 proposed last year. Some unforeseen obstacles hindered progress in Specific Aim 2, which includes development of an assay to screen for drugs that may reverse the functional defects caused by ATP1A3 mutations. (more…)
Testing for the ATP1A3 gene
In 2012 we were able to announce that the first gene responsible for AHC (ATP1A3) had been found and confirmed! This is exciting news because over 70% of those suffering with AHC have this mutation.
The paper describing this finding can be found here:
2012 Bridge Grant Updates
1/8/2013 – Final Report
Aim 1: Identify key genes and mechanisms causing AHC, ensure pathophysiologic studies to prove functional relevance of mutations identified, perform genotype/phenotype correlations, help ensure widespread dissemination of study results, identify potential therapeutic targets in AHC, and work closely with Dr. Reyna to identify appropriate mechanisms and efforts for clinical trials in AHC. (more…)
Bravo! The First Piece of the AHC Puzzle Solved! First AHC Gene Identified!
On Sunday, July 29, 2012, an article was published on the website of Nature Genetics (www.nature.com/genetics) titled, “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” The article was authored by a collaboration of international researchers including those from Duke University and the University of Utah. (more…)
Press Releases & Announcements – AHC Genetic Discovery!
Nature Gentics Link http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2358.html
Analysis of Pepsi Refresh Project (Genome Sequencing) Near Completion- Positive Results Expected
The Pepsi Refresh Project analysis is nearly complete. We expect that the full genome sequencing of nearly 2 dozen AHC patients, made possible by the $250,000 grant from Pepsi we won in November, 2010, will help to advance the science significantly and send us further on our quest to cure AHC. The research team has submitted a report to Pepsi in February, however the complete analysis will take a little longer and the results won’t be made public until a Scientific Journal publication is released.. Stay tuned for more information! Exciting times ahead this year for the AHC Foundation and for all of us involved with someone who suffers from AHC.
Analysis of Gene Sequencing to begin
The first installment of the Pepsi grant money has allowed us to use the latest genetic sequencing technology available. As a result of this complete sequencing, we have unparalleled resolution of each subject’s genome. Theoretically, this should prevent any genetic mutation from being concealed (within the 3 billion nucleotide pairs in the human genome) and give us the best chance to find the cause (or causes) of AHC. This part of the project is now complete. The sequencing is finished.
We have just received the second installment of the Pepsi grant money which will be used to extensively analyze the massive amounts of data produced by the sequencing of each patient. Patience will be critical, but we are hopeful that this round of testing will give us our best chance yet at finding the answer. We will eagerly await any news and will keep the AHC families apprised of any developments!
Updates on the AHC Research at the University of Utah, April 2011
Under the direction of Dr. Kathryn Swoboda, The University of Utah Pediatric Motor Disorder Research team has been busy working on several current and upcoming projects for AHC. The clinical trial of Sodium Oxybate (SO) is now in its final stages with all of the six targeted participants enrolled. Four of the six participants have completed the entire one-year study and the process of validating and verifying the available data for each study participant is under way. We are continuing to follow-up with the remaining two active participants who have four to six months left in the maintenance phase of the clinical trial. (more…)