Funding research to identify the causes of Alternating Hemiplegia of Childhood (AHC) is the leading principal of the AHCF. In an effort to further our mission, the foundation maintains mutually beneficial relationships with various research institutions and international family associations. Nurturing and respecting the relationships between researchers and families is a responsibility the AHCF Board takes very seriously.
In order to answer some of the questions being discussed among our families, the Board of the AHCF put together a timeline of significant events involving AHC research from our perspective. The timeline starts with winning the Pepsi Refresh Challenge and goes up to the publication of the Nature Genetics article on the ATP1A3 gene mutation. This review is meant to clarify information that is being discussed within our community and on the internet. However, it is important to recognize that researching a disorder as complicated as AHC is incredibly challenging and that this timeline is a brief overview of the work.
November 2010 – The AHCF wins the Pepsi Refresh Challenge and is awarded $250,000 (in two equal payments).
January 2011 – The Pediatric Motor Disorder Research Program at the University of Utah (Utah) is awarded the $250,000 Pepsi grant to conduct complete genome sequencing of DNA samples from AHC patients.
March 2011 – Preliminary results from an exome study conducted by Professors Neri and Guirrieri were presented at a workshop in Italy.
Spring 2011 – At the request of the AHCF, Utah sent DNA samples to Duke University School of Medicine Center for Human Genome Variation (Duke).
July 2011 – The AHCF Family Meeting in Raleigh, NC took place. During the meeting, Dr. Erin Heinzen provided a review of the research ongoing at Duke and Dr. Sandra Reyna provided a review of the research going on at Utah.
September 2011 – Researchers at Vanderbilt University (Vanderbilt) began negotiating a grant proposal with the AHCF to perform exome sequencing of AHC patients. Numerous discussions were conducted and, at the request of the AHCF, Vanderbilt is currently negotiating a new project.
November 2011 – The French and Italian family associations coordinated a European meeting of genetic groups engaged in AHC research. Contracts were initiated to establish a European consortium of exome studies in European patients.
January 2012 – Duke notified AHCF and other family associations of their intent to publish a paper on a possible cause of AHC in patients with epilepsy.
January 2012 – Utah awarded grant for 1.) clinical and genetic studies in AHC and genotype/phenotype correlations, and 2.) creating an online AHC database for natural history and functional outcomes.
February 2012 – Utah submitted final report to Pepsi Refresh Project as required by grant award.
February 2012 – Dr. Mohamad Mikati, from Duke, presented a scientific poster at National Institutes of Health (NIH) Rare Disease Day program.
March 2012 – Utah notified AHCF of preliminary analysis results from Pepsi Refresh whole genome sequencing project. To facilitate additional screening of candidate genes, Utah continued the collaboration with an independent research team.
March 2012 – Representatives from international family associations held a conference call and agreed to facilitate collaborative relationships among groups. Countries represented on the call included: Canada, France, Germany, Iceland, Italy, Spain, and the United States.
April 2012 – Utah created a database for demographic, medical history and functional outcome data. With over 235 participants to enter, the population of the database is ongoing.
April 2012 – Dr. Aga Lewelt, from Utah, presented a scientific abstract on sodium oxybate in patients with AHC at the American Academy of Neurology Annual Meeting in Louisiana.
June 2012 – Dr. Mohamad Mikati, from Duke, presented the new gene discovery in neurogenetics at the International Child Neurology Congress in Brisbane, Australia.
June 2012 – Dr. Kathryn Swoboda, from Utah, presented an update on the research currently underway at Utah at the San Francisco Family Meeting.
July 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.
Families and supporters of AHC patients waited decades for concrete research results to determine the cause(s) of AHC. The above timeline demonstrates the dedication of the AHCF to help find those results and the complicated nature of doing so. We look forward to the day when research transitions from finding a cause to finding a cure.