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

by Dr. Kathryn Swoboda As everyone is probably aware from recent news coverage, the human genome project is nearly completed. Regarding AHC specifically, as you probably know by now, we cloned the translocation breakpoint nearly a year ago,… Read More

February 2002 by Dr. Kathryn Swoboda We would like to take this opportunity to update you regarding a number of exciting developments in the AHC gene project. The work on finding the gene or genes causing AHC has… Read More

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… Read More

One of the items that was given the highest priority at last year’s AHC Symposium was the creation of a blood cell bank that would allow for future genetic research to take place. To do this, it will… Read More