Research Updates
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 will be submitting a report to Pepsi on February 15. 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…)
Research Update: April 1st – Oct 30th, 2005
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 proposal, and in the same format as that contained in the prior progress report, in order to better help the committee assess our progress toward the outlined goals. We are pleased with our recent progress, and think that the speed and efficiency of evaluating new gene candidates in our laboratory and in collaboration with others has greatly increased our excitement over the past few months. (more…)
Research Update (1998)
by Dr. Louis Ptacek, M.D. Associate Professor Dept. of Neurology, Human Genetics University of Utah Salt Lake City, Utah
A neurologist at Children’s Hospital in Boston, while working a couple of years ago with Bruce Korf, saw a number of patients from the family that Dr. Mikati originally reported. More recently, this neurologist has come in contact with additional patients in the family, and is attempting to characterize their phenotype, as well as to collect blood for DNA extraction. This neurologist is planning to do a postdoctoral fellowship in my laboratory beginning sometime in the next year. (more…)
Recommendations for the Future
There should be an international database of AHC patients, and that database should be available to any researcher who wants to study this disorder. At present, there are several small databases belonging to various investigators and probable overlap, so that an individual patient may be included in more than one database. A subcommittee was set up to discuss and design the most suitable types of data to be included in the database. (more…)
Some Research Findings in AHC
(The following is an excerpt from Dr. Chugani’s summary of the workshop held in Seattle in May, 1997. The complete summary was printed in Issue 4 of the IFAHC newsletter. ) (more…)
