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News : Researchers Closer to Cause of Primary Hyperparathyroidism in the Keeshond [Tuesday, May 16, 2006]

The AKC Canine Health Foundation is pleased to announce that a team of researchers headed by Dr. Richard E. Goldstein, DVM, Diplomate, American College of Veterinary Internal Medicine, has significantly narrowed the search for the gene that causes Primary Hyperparathyroidism (PHPT) in the Keeshond. Dr. Goldstein, an Assistant Professor of Small Animal Medicine at the Cornell University College of Veterinary Medicine, and collaborators Dr. Kerstin Lindblad-Toh and Dr. Claire Wade of the Broad Institute of Harvard and MIT, have recently completed a search of the entire canine genome for the locus or region of the affected gene. Such a region has been identified and the team is confident that further research will enable them to identify the actual gene and mutation responsible for causing PHPT in Keeshonden. Using the recently discovered information, Dr Goldstein has developed a genetic test for the diseased locus that will be made available at Cornell within the next few months. In the near future, the test will enable Keeshond breeders to make educated breeding decisions, which should eventually eliminate PHPT from the gene pool.

Canine Primary Hyperparathyroidism is an inherited, late onset disease which causes a dog's blood calcium to abnormally increase, due to a tumor or abnormal function of one or more of the parathyroid glands. The Keeshond is the breed most affected by PHPT and without treatment, dogs with PHPT may eventually die of complications caused by the increased serum calcium.

August 2006 - mail published on KeeshondHealth Yahoo!Group

Hi Everyone,

The Third International conference on "Advances in Canine and Feline Genomics and Inherited Diseases" was held on August 3-5, 2006 at the School of Veterinary Medicine, University of California - Davis. The speakers and poster presenters were a "who's who" of genetic researchers from around the world and included Elaine Ostrander, Urs Giger, Gary Johnson, Gordon Lark, Matthew Breen, Niels Pedersen, Jerold Bell, David Sargan and Paula Henthorn, among others.

I am pleased to announce that one of the speakers was Dr. Richard Goldstein, presenting "Genetic analysis and mapping of primary hyperparathyroidism in Keeshonden." Dr. Goldstein led a team that has recently discovered the locus that contains the gene that causes
primary hyperparathyroidism (PHPT) in the Keeshond. Dr. Kerstin Lindblad-Toh and Dr. Claire Wade from the Broad Institute of MIT and Harvard, using Dr. Goldstein's Keeshond research samples and a new process which they have developed, were able to search the entire canine genome and to identify a region that most likely contained the gene causing the disease. Using this information, Dr. Goldstein was then able to analyze the genes located within this region and to pinpoint a single gene. He thinks there is very good evidence to support the conclusion that this gene is the one that causes PHPT in the Keeshond. He has developed a test and it will be available at Cornell University to Keeshond owners and breeders in the very near future. Test information will be released soon, please be patient while the details are finalized. The conference was hosted by the Veterinary Genetics Laboratory and the Center for Companion Animal Health, School of Veterinary Medicine at UC-Davis and sponsored by Nestle Purina. Contributors included the Winn Feline Foundation and the AKC Canine Health Foundation.

Dr. Goldstein's research and success was made possible by the Keeshond owners and breeders who were willing to donate samples from their Keeshonden. Some stepped forward with samples from Kees who have been diagnosed with PHPT. Others donated pedigrees and diagnosis information from Kees who had PHPT, but died before the PHPT study was started. And many donated samples from their older, unaffected Kees. Without your support, the research couldn't succeed. Dr. Goldstein and I thank you for your dedication to the future health of the Keeshond breed. Grant number 631, "The Genome Wide Search for the Genetic Cause of Primary Hyperparathyroidism in the Keeshond," was made possible by financial support from the Keeshond Club of America and the AKC Canine Health Foundation.

I was to attend the conference to watch Dr. Goldstein's presentation so that I could report back to the Keeshond community, but circumstances arose which made it impossible for me to do so. Unfortunately, my soon to be 12 year-old Keeshond Connor, was diagnosed with hemangiosarcoma on Monday, July 31st. We put Connor to sleep 3 days later, on Thursday. It was nice to have a few extra days with him before we had to say our final good-bye. We received Connor's ashes back on his 12th birthday, August 11, 2006. Connor was diagnosed with PHPT in 2004, treated successfully by Dr. Goldstein and was one of the first Kees entered in the PHPT study. I miss him more than I thought possible.

Regards,

Cathy Bosnic

And now...

Oct. 06 : A genetic test is available !

Hi Everyone,

I am honored to announce the Keeshond PHPT genetic test is officially launched! Details for the test are available on Dr. Goldstein's website at http://www.vet.cornell.edu/faculty/goldstein/ - click on the words Goldstein Lab in the middle of the page to access. Or you may access Dr. Goldstein's laboratory directly at http://www.vet.cornell.edu/labs/goldstein/

A few important things:

Dr. Goldstein is anticipating a lot of samples in the first several weeks. If you have a litter on the ground and would like the parents and/or the puppies tested OR the dog/bitch for an upcoming planned breeding (next three weeks) that you would like results for, please submit your samples as soon as possible; also please contact me at cbosnic@izoom.net if you are in one of the above situations. If you are testing dogs that will not be used for breeding immediately, would you please consider waiting a week or so to submit your sample? I know everyone wants their test results right now, but please put yourself in the situation of having a litter of puppies that needs tested before they are placed. Thank you for your consideration.

You will need to print out and send in TWO submission forms; both the Cornell AHDC and the Goldstein laboratory forms need to be included with your sample.

The fee is $95/sample. Litter and show (quantity) discounts are available, further details are available on the site. You will pay your vet for the $95 cost of the test and he will pay the Cornell AHDC. Your vet will also charge you for the shipping costs of submitting the sample to the Cornell AHDC. If your vet has any questions about the submission process, including sample collection and packaging for shipping, have him contact the lab at 607-253-3333 or go to their website at http://www.diaglab.vet.cornell.edu

Courier service discount rates are available through the AHDC. Please note that your vet will need to prepay the shipping charges to receive the courier service discount. Details are available at http://www.diaglab.vet.cornell.edu/test/feeman/CourierInfo.pdf and the form to order labels is available at http://www.diaglab.vet.cornell.edu/test/feeman/CourierOrder.pdf The discount is considerable so encourage your vet to look into this ahead of time. For shipping questions, the AHDC shipping department can be reached at 607-253-3935.

Results will be reported only to the vet who submits the sample, not directly to the owner. Please do not call either the AHDC or the Goldstein laboratory for test results, ask your vet to do so if 14 business days have passed and they have not received your results.

If you or your vet have any questions about the PHPT or the PHPT genetic test, you may contact the Goldstein Molecular and Genetics Laboratory at 607-253-4480, leave a message and they will return your call or email the lab at phpt@cornell.edu

I hope that all of you will join me in congratulating Dr. Goldstein on his successful research and the development of the first breed specific genetic test for Primary Hyperparathyroidism in the Keeshond. Regards,

Cathy Bosnic