Journey Posted December 13, 2016 Report Share Posted December 13, 2016 Hi, Just curious if there is an updated to the research the foundation is doing? Any news? Or did I miss it on the website? Also, I'd like to ask...is there anyway the ABCA will walk back their comments on ProjectDog and their research and join them (collaborate) so we're not necessarily reinventing the wheel? Is none of their data valid? I have no scientific education whatsoever! That's why I'm asking.. Thanks! Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted December 13, 2016 Report Share Posted December 13, 2016 As far as we were told projectdog had not done much new research beyond what was published in 2012 (I think 2012). However Lohi (a co-author of the original study) did continue to research eaod in his country and your samples are adding North America genetics to the genetic data he already has collected. We are not reinventing the wheel but are joining and pushing forward work that was already beyond where projectdog was going to start. Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted December 13, 2016 Report Share Posted December 13, 2016 Go look up the date of the publication on identifying the marker for CEA and the date when Optigen first offered the CEA test to better set your expectations on when we will have a test. Quote Link to comment Share on other sites More sharing options...
Journey Posted December 13, 2016 Author Report Share Posted December 13, 2016 Thanks Mark, very informative. Quote Link to comment Share on other sites More sharing options...
Journey Posted December 13, 2016 Author Report Share Posted December 13, 2016 If I understand things correctly, the genotype mapping for CEA was started in 03, and the test was available in 10. Which leads me to *assume* the marker for EOAD is still several years out. Correct? It was my understanding that the genetics in the Lohi research were from US dogs to begin with. No? This is the paper I was reading. However, I cannot locate a date that the study began. http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002898 Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted December 13, 2016 Report Share Posted December 13, 2016 The CEA test was available in 2005 and publication of the CEA genetic marker was in 2003; the results were published and peer reviewed. At that time it took at least 2 years to go from identifying the marker associated with CEA to having a test that was predictive of the genetic disease. The testing to date has not identified the marker(s) that are associated with eaod (btw Plos is for publishing results fast with very little peer review). No one can predict when the marker for eaod will be identified. What the CEA discussion was for is to provide everyone with a sense of timing between when the marker is identified to when a test could be developed that is predictive for a dog developing eaod. The linked article indicated that samples from Finnish dogs were used as controls. Most of the affected dogs in the linked article were North American. I do not believe those samples were made available to Lohi by Neff. My biggest regret during these past years is how long we waited for Neff to return with the desire to do more studies on eaod (we waited because we thought he was the farthest along in the research). Early on he provided me with "his cell number"; however there were many months/years where he did not answer calls, the voice mail box was full, and emails went unanswered. He promised to share our samples with other researchers but never did so. They did not properly lable the samples from the epilepsy study making them unusable for futher studies. These are not the behavior of most researchers. Quote Link to comment Share on other sites More sharing options...
Journey Posted December 13, 2016 Author Report Share Posted December 13, 2016 Thanks Mark. So, is this article basically junk? Not the article you told me to find? Can we be updated as to how many samples from the categories requested have been submitted? How many more are needed? Is Dr Lohi starting over? Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted December 13, 2016 Report Share Posted December 13, 2016 I trust the data in the article (you linked the correct article); some of the conclusions presented by Neff are still up for debate (even amongst the co-authors). Dr Lohi is not starting over, the data in the article (and the collaboration with Neff for the article) provided him with a starting point for the research he continued while we were waiting for Neff to re-emerge interested in continuing his study on EAOD. I do not have updated numbers on samples; but providing an update to our community on sample collection is a good idea that I will bring up with the other directors of the HEF. Quote Link to comment Share on other sites More sharing options...
Journey Posted December 13, 2016 Author Report Share Posted December 13, 2016 Thank you!! Quote Link to comment Share on other sites More sharing options...
Liz P Posted December 14, 2016 Report Share Posted December 14, 2016 Mark, could you please provide an address for where I can send a sample. I have a bitch who had normal hearing but produced an EOD affected pup. He has documented BAER tests starting at 6 weeks old and no ear infections, injuries, etc. Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted December 14, 2016 Report Share Posted December 14, 2016 https://bordercolliefoundation.org/get-involved/genome-sequencing/ Quote Link to comment Share on other sites More sharing options...
Liz P Posted December 14, 2016 Report Share Posted December 14, 2016 Mark, I have seen that link but she does not fit your criteria. I was told previously that her sample was desirable though. Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted December 14, 2016 Report Share Posted December 14, 2016 Are you saying the sire and the dam were both hearing at age 8 but a pup went deaf between 3yo and 8yo? Deleted: my mistake Quote Link to comment Share on other sites More sharing options...
Liz P Posted December 14, 2016 Report Share Posted December 14, 2016 : Dogs affected with early adult onset deafness (EAOD) who went deaf between the ages of 2 and 8. Dogs with idiopathic epilepsy who are over the age of 8 with no loss of hearing. Dogs without hearing loss or epilepsy who are over the age of 8, from lines with no known incidence of epilepsy or hearing loss. Dogs unaffected by EAOD, who were bred to dogs that did become affected with EAOD, and who produced at least 8 pups from such mating(s) (in one or more litters), all of whom reached the age of 8 with no hearing loss. She does not fit any of those criteria. She was bred to a male who had normal hearing last I heard (at 11 years old) and they produced and EOD affected dog. Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted December 14, 2016 Report Share Posted December 14, 2016 Select catagory 4 and enter the description above into the text box below the catagory radio buttons. Quote Link to comment Share on other sites More sharing options...
Sue R Posted December 14, 2016 Report Share Posted December 14, 2016 Deleted. Quote Link to comment Share on other sites More sharing options...
Eileen Stein Posted December 16, 2016 Report Share Posted December 16, 2016 Liz, I understood that your sample was from Freya, who is now deceased? If you haven't already followed the procedure Mark suggested (or even if you have), you can mail your sample (it's a swab, right?) to me. The last time we discussed this was in August, and I suggested that you wait until somewhat cooler weather, not wanting to run the increased risk of bacterial growth in that heat. The researchers want 3 swabs per dog, so please send 3 if you have them. Please include a copy of Freya's pedigree and a completed questionnaire/consent form (see attached). Please send in a padded (not plastic) envelope. I will record your sample in the database and forward to UMN. The same goes if the bitch you're asking about is not Freya, but one who is alive now. If you need my address, or have any questions, please PM me. Thank you very much. --Eileen HEF questionnaire&consent form 12-16.doc Quote Link to comment Share on other sites More sharing options...
Liz P Posted December 16, 2016 Report Share Posted December 16, 2016 Yes, these samples are from Freya who has been dead for more than a year. I can't remember how many swabs I have, but I saved them in the hopes that her DNA could help with the study some day. Quote Link to comment Share on other sites More sharing options...
Journey Posted October 25, 2017 Author Report Share Posted October 25, 2017 Any updates as to where things stand now? Anything new? Progress? Quote Link to comment Share on other sites More sharing options...
Mark Billadeau Posted October 25, 2017 Report Share Posted October 25, 2017 Work is progressing and we have received an update; however it was marked confidential by the researchers and we have not heard back from them on our request on what we can divulge. What everyone wants to know is has a correlation been found between one gene and eaod? Not yet When this correlation is found we still will not have a proven test for eaod. Unlike what another group indicated, finding a gene that is correlated to eaod does not prove that gene is predictive of a dog developing eaod. We won't have a test like the one for CEA. Extensive testing of that gene will need to be performed to prove it is predictive of dogs developing eaod (like what was done for CEA). Since it takes years for dogs to develop eaod (unlike CEA) we will want an extensive data base of samples (that were not included in the gene identification work) and the hearing status of those dogs at 8years or older so we can take years off of the test validation study. We don't want to wait years for those dogs being used to validate a possible test to reach an age where the eaod status is known. Quote Link to comment Share on other sites More sharing options...
Journey Posted October 25, 2017 Author Report Share Posted October 25, 2017 Thanks Mark, much appreciated! I've got 3, over 8 yrs. All BAER normal. One has lines that have been implicated (half brother) the other two so far as I know have no relationship to any dogs diagnosed. Am I understanding you correctly that it may be advantageous for me to submit samples? Out of curiosity..when were the researchers asked about the confidentiality and potentially the release of an update? Has it been months and they've not responded or just a few days? Thanks again for the update! Permission to share? Quote Link to comment Share on other sites More sharing options...
Liz P Posted October 25, 2017 Report Share Posted October 25, 2017 I tried to submit a newly identified EOD producer, BAER tested normal multiple times, over the age of 8 years old. No response whatsoever. A friend of mine tried to submit a newly identified 6 year old dog who went deaf. No response. I have heard similar stories from others online. It's making people frustrated and lose faith in the study. Who is responsible for responding to those request forms to submit dogs to the study? Quote Link to comment Share on other sites More sharing options...
Eileen Stein Posted October 25, 2017 Report Share Posted October 25, 2017 Liz, you keep posting stuff like this in various places -- including last year in page 1 of this very thread (see post #10 and post #17) -- making it sound as if the HEF is not responsive to dog owners wishing to submit samples, and that we are causing people to be "frustrated and lose faith in the study." I have called you on it privately a couple of times, but at this point I want to say publicly that I don't know what you're talking about. During calendar 2017 alone, through intensive effort, we collected samples from, and administered free BAER tests to, over 300 dogs. We have initiated contact with other dogs who are of interest for the particular phase the study is in, as well as taking samples from people who have contacted us directly. You yourself have provided a sample (see posts #10 and #17), so you certainly know how to contact us. I don't know why you tried to make it sound as if you had had no contact from us regarding giving that sample. Sadly, at this point it is difficult for me to escape the conclusion that you yourself are trying to cause people to be frustrated and lose faith in the study. Quote Link to comment Share on other sites More sharing options...
Eileen Stein Posted October 25, 2017 Report Share Posted October 25, 2017 In Mark's post he detailed the steps that are necessary to find the mutation(s), develop a test for it/them, and validate that test. It may sound discouraging that so many steps must be gone through, but I want to make sure no one misinterprets this to mean that we won't end up with a test like the one for CEA. Indeed, that is the goal, and at the end of the process we have every reason to hope and expect that we will have a test just like that. How long it will take to get there, it is impossible to predict. Journey, as I recall it has been a month or two since we asked if any of the interim report could be publicly released. Frankly, I expected that they would not want to have it released to the public. It is research in progress. Nor do I think it would be very helpful to anyone but a molecular geneticist. It is predominately things like "We were able to define the critical region to a XXXXXXX region based on XXX. . . . In addition, when [doing XXXX], the region was further narrowed down to XXXXXXXX. . . . The XXXXX gene speculated in the previous study is excluded by our study." I think it's safe to pass on that they did find support for the mode of inheritance being recessive. Quote Link to comment Share on other sites More sharing options...
Maja Posted October 25, 2017 Report Share Posted October 25, 2017 Mark, I can supply hearing and affected sibling but from overseas, would it be useful for the study? Mother too. Quote Link to comment Share on other sites More sharing options...
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