Thanks you for your email and I apologize a delayed reply due to a busy start of the Fall time!
Here is a brief summary of the current research status (cc Riika, my PhD student in the project).
We currently have >1000 blood samples from Labrador Retrievers in our gene bank, partly collected together with our collaborators Dr. Helena Niehof-Oellers (Düsseldorf, Germany) and Prof. Tosso Leeb (University of Bern, Switzerland). This cohort includes ~200 epileptic or suspected epileptic dogs. We keep collecting more all the time.
We have studied now 171 Labradors, including 123 epileptic (or suspected) and 48 epilepsy-free dogs. We have analyzed the genomes of the 171 dogs (genoptyping with 172 000 SNPs or DNA markers) and have started to compare the data between epileptic and non-epileptic dogs to find the genetic cause. We have not found yet a major breakthrough but data analysis is still ongoing using various statistical approaches. We are also rechecking the phenotypes of the dogs to better categorize them in the analyses. The clinical phenotype is somewhat varaible between the dogs and we need to be careful in how to handle them in the analysis. We consult veterinary neurologist to learn more.
We have also palnned a new experiment to read the entire genomes of a subcohort of epileptic dogs (n=~30) that are related to each other and present clnically similar epilepsy phenotype. This analysis has much higher resolution into the genome and should reveal regions and candidate mutations that all epileptic dogs share and could be then further validated to understand how they relate to the disease. We hope to start the experiment within this month to get genome data back for bioinformatic analyses in next two months.
We are very grateful to Labrador Retriever owners and breeders who have participated in the study! We continue collecting samples for the project and all new samples and welcome particiaption from any new cases that you become aware. We want to solve this disease mystery for the breed and other breeds.
We are also grateful to your previous and possible future donations that help to run this project! Please let me know if you need any further information.
Thanks you and best regards,
(Prof. Hannes Lohi)
Canine Genetics Group
Program in Molecular Neurology and Folkhälsan Institute of Genetics
FIN-00014 University of Helsinki