What stage are we at with this research?
In early 2015, scientists at the AHT conducted a Genome-Wide Association Study (GWAS), or DNA scan, in the Italian Spinone to search for regions of the DNA that might be involved in idiopathic epilepsy. Our cases were 30 Italian Spinoni confirmed as having idiopathic epilepsy by Dr Luisa De Risio, Head of Neurology at the AHT, through survey or examination at the AHT. The controls used were 29 Italian Spinoni over the age of seven which had never had a seizure. We were unable to identify any regions of the DNA that are associated with epilepsy in the Italian Spinone. To take this research further we would ideally like to repeat the GWAS with an additional 30 cases and 30 controls.


How has the collection of samples progressed?
In the Canine Genetics research group at the AHT we have been gathering together and sorting all of the Italian Spinone DNA samples we have received over the last two years. We would like to thank everyone who has helped us with our study; all of the owners that have sent us DNA samples, and everyone involved with the breed who has helped us promote this study and encouraged people to take part. We have had a fantastic response; it is very encouraging to us that Italian Spinone owners are so passionate about the health of the breed, and idiopathic epilepsy in particular.

We have been particularly successful at recruiting unaffected dogs over the age of 7. We have received over 150 DNA samples which we will be able to use as controls. This far exceeds the 30 controls we need for the next GWAS, but every sample we have received will be useful for our study. Once we have completed the GWAS we will need the additional samples to follow up anything we find.
For a dog to be diagnosed with idiopathic epilepsy all other possible causes of seizures, or other diseases which could look like seizures, need to be excluded before idiopathic epilepsy can be diagnosed. It is essential for our research that we are as certain of the diagnosis as possible before a DNA sample from an affected dog is used for our research. For these reasons it is obviously more of a challenge to find samples from dogs affected by idiopathic epilepsy.

In total, since the first GWAS, we have received samples from 48 dogs which have suffered from seizures. For dogs not diagnosed or treated at the AHT we need as much information as possible to be sure of the diagnosis and to classify the samples for our study. To get this
information we ask for owners to complete an epilepsy questionnaire, and to provide with veterinary records, if possible. The questionnaires are reviewed by Luisa De Risio, head of neurology at the AHT, to confirm diagnosis. Due to Luisa’s busy clinical schedule we usually save the questionnaires for her to review in batches.

An outline of the sample collection and questionnaire review process is shown below.

 ahtflow

Another factor which affects how many useable samples we have is the amount of DNA we are able to extract from the cheek swab samples. All except the most recently received samples have now been checked, and fortunately all of the samples checked contain enough DNA for the GWAS. If any samples do not contain enough DNA we may contact owners for a resample.

In summary:
We have more than enough samples from unaffected dogs over the age of 7 for the next stage of the study, but as always we will welcome more.
We still need additional samples from dogs diagnosed with idiopathic epilepsy. We have 18 which we are confident will be useable, and seven with questionnaires which have yet to be assessed.
We have samples from 12 dogs for which a questionnaire has not been completed. It is essential for our research that owners of affected dogs complete the questionnaire (Found here, or email This email address is being protected from spambots. You need JavaScript enabled to view it.). Some owners have already been contacted, others will be contacted soon.
It helps speed up the process greatly if owners can include all primary and referral veterinary records and seizure diaries with the questionnaire.

Acknowledgements
We would like to thank all Italian Spinone owners and breeders who have submitted samples and information from their dogs.