Principal Investigators: Margret L. Casal, Dr. med. vet., PhD, Dipl. ECAR, Petra Werner, Dr. med. vet.,
Paula S. Henthorn, PhD; University of Pennsylvania, School of Veterinary Medicine, Section of Medical Genetics;
3850 Spruce Street, Philadelphia, PA 19104-6010

The overall objective of this study is to identify the gene lesion (mutation) responsible for idiopathic epilepsy in the Irish wolfhound. Specific aims are to perform genome wide association studies, fine mapping and ultimately mutation identification. Through your generous funds, we have been able to complete the first objective of the specific aims and have located several candidate genes that we have begun sequencing. In the meantime, we have sent the data from the genome wide association study to Dr. Bustamante at the College of Veterinary Medicine at Cornell in Ithaca for further statistical evaluation. Specifically, 8 of the top scores localized to chromosome 22 and 15 of the top 25 localized to the same chromosome, indicating the significance of this area on chromosome 22. While waiting for Dr. Bustamante's analysis of more SNPs, we have begun sequencing two candidate genes on chromosome 22 that are expressed in the brain. Once the data comes back from Dr. Bustamante we will be able to proceed with sequencing more candidate genes.