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… Read More

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… Read More

Nature Gentics Link  http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2358.html AHC Foundation Press Release http://www.onlineprnews.com/news/249348-1343786507-parents-passionate-efforts-help-researchers-identify-cause-of-rare-disorder-affecting-800-worldwide.html

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… Read More

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… Read More

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… Read More

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… Read More

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… Read More

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… Read More

Over the past several months we have made continued progress in evaluating various gene candidates which may play a role in AHC. I will highlight this progress in the order they were specifically presented in the initial grant… Read More