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Mark Billadeau

Border Collie Studies Sample Collection Website

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As part of the ongoing genetic studies of epilepsy, early onset deafness (EOD), and noise phobia (a collaboration with Steve Hamilton at UCSF) Dr Mark Neff has initiated the collection of 1000 plus samples from Border Collies. The primary use of these samples will be for a population survey of the prevalence of the EOD markers in our gene pool. Additionally, these samples and the DNA data can be used as healthy controls for the other genetic studies. It should be noted that some of each sample will be banked for future genetic studies. Due to Dr Neff's affiliation with two human cancer research institutes these future studies are likely to be health related studies (canine model for a human genetic disease); however, this cannot be guaranteed. Dr Neff's interests also include studying the genetic roots of canine behaviors; for our breed he is especially interested in the genetic roots of the herding instincts. This interest makes him keen to receive samples from the working Border Collie gene pool and makes him sensitive to our interests and concerns on how these samples will be used in the future.

 

To facilitate the collection of samples from Border Collies he has set-up a website for requesting sample collection kits.

 

Neurogenetics Canine Behavior DNA Kit Request

Through this website you can request kits for affected dogs (epilepsy, EOD, noise phobia), and healthy controls. You can also place restrictions on the use of submitted DNA samples. Samples from all dogs (even from those that have already submitted samples during previous sample collection drives) are requested.

 

A large DNA database will be valuable for our breed. In addition to aiding the current genetic studies, it can be used to assess the measured genetic diversity within our gene pool (not just an estimate based upon pedigree). As more genetic mutations and diseases are identified a large DNA database will prove valuable for locating and assessing the prevalence of these in our gene pool.

 

Please visit the website and consider submitting samples of your dogs to this effort.

 

Mark Billadeau

ABCA Health & Genetics Committee Chair

 

(edited to correct link)

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Mark,

I'm curious: why submit samples from dogs who have already submitted before? I've submitted all (or almost all in the case of epilepsy) of my dogs three separate times (noise phobia, EOD, and epilepsy). Although I don't mind submitting again, how are they avoiding duplication and appearing to have more samples than they really have (e.g., if each of the samples I've previously supplied are counted separately)?

 

J.

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Hey Mark, I clicked the link to look into sending a sample and it didn't work. Not sure if it's me or if there is an issue with the link.

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Okay, that makes sense for the behavioral genetics study, but less than a year ago (last November), I gave (blood) samples from my dogs for the epilepsy study and thought that was being shared with the EOD study (since BAER testing was being done at the same time). In March I sent in cheek swabs for all my dogs to the EOD study. Are you (or anyone else who has the answer) saying those weren't shared either?

 

J.

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Okay, that makes sense for the behavioral genetics study, but less than a year ago (last November), I gave (blood) samples from my dogs for the epilepsy study and thought that was being shared with the EOD study (since BAER testing was being done at the same time). In March I sent in cheek swabs for all my dogs to the EOD study. Are you (or anyone else who has the answer) saying those weren't shared either?

 

J.

 

Those were almost certainly shared, Julie. I believe they are calling for resamples to cover the earlier samples given.

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Mark,

I'm curious: why submit samples from dogs who have already submitted before? I've submitted all (or almost all in the case of epilepsy) of my dogs three separate times (noise phobia, EOD, and epilepsy). Although I don't mind submitting again, how are they avoiding duplication and appearing to have more samples than they really have (e.g., if each of the samples I've previously supplied are counted separately)?

 

J.

DNA testing technology continues to improve at a very rapid pace. The new gene chips now cover a much larger number of base pairs. The initial EOD testing was performed on about 2 million base pairs the latest gene chips to be used for the 1000+ samples will cover more than 2 million base pairs.

 

If you want to be sure if samples from your dogs are really needed I would contact the research group using the email address posted on their website.

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I requested kits - I have two non-affected (Celt and Dan) and Megan (who has early adult onset deafness).

 

Dan's never been collected; Celt was collected some years ago (for Melanie's study); and Megan was collected last winter (for the deafness study).

 

I am so grateful to see research being done on these topics.

 

Thanks, Mark, for posting this (and thanks, Laura, for the link).

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I requested kits for Robin and Brodie for the control group.

 

Not sure Ladybug qualifies - though she's a purebred, I don't have registration papers...

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As Liz stated.

 

 

WHAT'S NEW?

Canine Behavioral Genetics Project (UCSF)

 

Started in 2004,

 

We regret to inform our followers that we are closing down the lab the end of 2012.

 

 

Stay tuned if funding allows us to reconnect and continue dog behavioral research in the future.

 

This does not impact the ongoing research projects with Dr Neff nor his collaboration with Steve Hamilton and his group.

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Would love to hear any updates they have. Seems like they haven't come out with any new info since 2011.

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Neff is still working on a publication so nothing formal is currently available.

 

 

103 affected dogs and 105 control dogs were tested

state of the art gene chips were used

no genome stratification (breed split) was found among these dogs (mostly working bred)

the resulting genetic test data was of high quality (no evidence of testing errors)

no chromosomal regions were found to be associated with epilepsy

this does not exclude a genetic influence on epilepsy in our breed

likely there are multiple genes and each individual gene has a small impact

selective breeding is unlikely to reduce the incidence of epilepsy in our breed

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Thanks Mark!

Have there been any updates on EOD study? I know it was suggested that assessing probability coefficients might be possible soon...In advance of developing a test. Any new info about this?

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Darn it. So trying to avoid epilepsy, beyond not breeding dogs known to have it or produce it, is still going to be a crapshoot.

 

J.

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Julie,

 

Based upon the science I personally see no reason to excude from breeding a sire or a dam that produced epilepsy; just don't repeat the cross that produced epilepsy.

 

The ABCA recomendations on breeding are: Do not breed affected dogs. If two unaffected dogs produce an affected puppy, do not repeat that cross.

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Elizabeth,

Dr Neff has been working on developing the necessary web based data collection and lab data management system before he can offer this risk test on EOD. I have not heard from him letting me know his system is ready for use. When it is ready there will be announcements.

 

Mark

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It would be really nice if he could e-mail initial results on dogs that were used in the study to their owners.

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In a Genome Wide Association Study (GWAS) the dogs tested had been clinically assigned as affected or normal, from that assignment he then looked at the genetics to find where in the genome the affected dogs were different from the normal dogs. Dogs with unknown status cannot be used for a GWAS. How would these data be of use to owners? The owners already know the status of their dogs.

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Would be nice to know if our related dogs were suspected carriers or likely clear.

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