Genotype/Phenotype article from Swoboda and team

Fimage-Blog Genotype

Congratulations and thank you to Dr Louis Viollet, Dr Kathryn Swoboda, Dr Matt Sweney, Sr Sandra Reyna, Tara Newcomb, the rest of the team at the University of Utah and all of the physicians who have contributed in… Read More

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… Read More

ATP1A3

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… Read More

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… Read 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… Read More

Press Releases & Announcements – AHC Genetic Discovery!

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

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… Read More

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… Read More