The following updates from the Animal Heath Trust are in response to questions raised by Eileen Needham , Kennel Club Breed Health Coordinator for Norwich Terriers, on behalf of the Norwich Terrier Club.
29 June 2015
............. We are going to discuss the results of the Questionnare with Luisa this week, after which we will have a better idea of how we can proceed. For this condition, which is quite complex, a clear case definition is vitally important to improve the chance of positive results in any future genetics work. The difficult situation which we face is due to epileptoid cramping syndrome being genetically complex, and is therefore likely to be caused by many genetic variants and other non-genetic factors. Our study design will have to be spot on to give us the best chance of producing a good result. DNA tests for complex conditions are tests for risk, rather than the clear/carrier/affected genetic status seen for single gene conditions. There is currently only one test available for a genetically complex canine disease. Information on this can be found on the link given below
To develop a risk test, it is critical that any positive results are replicated using a large independent sample set. Whole genome sequencing of one of the robust cases is a good idea as it will provide us with a future resource.
Before we reapply to a funding body we will need to confirm our usable sample set of robust cases, and we should hopefully have a good idea of this after our meeting later this week.
From Oliver Forman
14 July 2015
Norwich Terrier Research Programme
Luisa (Luisa de Risio) has worked extremely hard and has identified 26 robust cases, the owners of which have all been contacted by telephone. In total there were 198 responses to the Questionnaire , 83 dogs have also been identified as controls. The next stage is to collect DNA from as many of these dogs as possible.
Luisa is now preparing a Paper which will be published in a veterinary journal.
For the genetics, as we have a much more robust set of cases we can feasibly start thinking about performing a small pilot study, with 26 cases and 34 controls if we can successfully collect DNA from all the cases. The cost of this study would be approximately £8000.Although it might not point us directly to the mutations causing this condition it will be a much better database than previously generated and one that we will be able to add to in the future as more cases and controls are identified.
From Luisa de Risio
31 July 2015
I will be able to release a summary of the results of the clinical study on the last week of September 2015 and I am hoping to have the full publication submitted to a scientific journal by the end of this year.
UPDATE on this item: 22nd. January 2016 from Oliver Forman who wrote: Luisa has just answered some questions that the reviewers had about the Paper. The Paper is now back with the editor of the scientific journal and will hopefully be accepted for publication soon and I am sure that Luisa will send you a copy of the paper as soon as it has been accepted and published.