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Claudia-Osterhagen.
Hello,
Epilepsy in Border collies is likely a polygenic treat given the negative results from multiple unpublished GWAS studies (n < 200 if that). Of course it makes it harder to combine studies for more power when even negative results go unpublished. I was wondering if your scientists thought that crowdfunding a study would be worth attempting? People would pay for and submit there own kits for affected/unaffected dogs. Even though it’s likely polygenic I can’t imagine the number of risk alleles would be comparable to that found in the human population. Or would a better approach be to perform WGS on affected and unaffected siblings/parents?
Thanks,
Beth
Thanks for bringing this up, Beth. The issue with crowdfunding individual studies like this is the sample size we need. We’d need hundreds (ideally a couple thousand) border collies, and we’d need to be pretty confident that we knew which ones were affected. Since epilepsy can be later onset this would mean the controls would all have to be at least 5-7 years old. Collecting that number of dogs is a massive amount of work. If a breed club were interested in working with us, that might be the way to go – they could do the sample collection and we could do the sequencing and analysis.
Let me know if you want to talk about this more.
Best,
Jessica Hekman, DVM, PhD
Darwin’s Ark Researcher
Hi Jessica,
Sorry it took me so long to get back to you. I had replied earlier but I guess my session timed out and it didn’t post. I don’t have any association with the breed clubs so I couldn’t say whether they’d be interested or not. The ABCA has already funded a GWAS study with negative results so I don’t know if they’d be interested in it again. And I figured the sample collection would need multiple years to acquire the needed number of samples. Maybe I’ll put out feelers in the border collie groups on social media. At the very least it would be nice to start a repository of data that is freely available, even if it’s Embark results. Despite multiple past research efforts to collect samples for genotyping, zero border collie data with associated epilepsy phenotypes is publicly available.
Thank you for your time,
Beth
It’s a worthy project, but a big one. Let us know how things go and if you get any traction!
Best,
Jessica
Thanks for info.
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