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…)
Updates on AHC Research at the University of Utah June 2010
The Pediatric Motor Disorders Program at the University of Utah currently has 53 AHC families enrolled in our online registry! The AHC Registry allows us to quickly and efficiently contact families in the future with information about new treatments for AHC, or about studies for which they may be eligible. Additionally, this provides us a rough “head count” of all people with AHC. (more…)
July 2007 Research Update
Thanks to the extraordinary efforts of the parents of children with AHC, we are moving ahead in our research program to identify the causes and potential treatment of AHC. In the last three years, we have focused our attention on evaluating “candidate” genes – genes that, for different reasons, may be responsible for the disorder. In the next three years, that important and difficult work will continue, but we shall also turn to a new phase of research into candidate treatments of AHC symptoms and promotion of awareness among the medical community. (more…)
Research Update: March 2006
Over the past few months we have made significant new progress in evaluating “candidate genes” which may play a role in causing AHC. Candidate genes are those which are considered more likely to cause the disease for a variety of reasons including 1) location of the gene near a known place where a chromosome problem has occurred in a patient with AHC, or 2) the gene of interest has been found to cause similar symptoms, such as those seen in hemiplegic migraine, closely related to AHC, or 3) the gene seems to perform a function in the brain that, when disrupted, seems likely to cause such symptoms, or finally, 4) the gene is associated with similar symptoms in an animal model in which that particular gene has been disrupted in some way. (more…)