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
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,… Read More
(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. )
Dr. Chugani’s Research To date 19 PET studies have been performed. These include 13 FDG PET, 5 Flumazenil PET and 1 AMT PET. The studies using PET scans have not produced an understanding of the basic pathophysiology of… Read More