New Cystinuria Project
We did it! Project fully funded!
The SDCA Health & Genetics Committee is very excited to announce the next phase of Deerhound cystinuria research that we hope will move us closer to understanding this disease in our breed, and we are asking for your support to fund this study.
Several years ago, when Whole Genome Sequencing (WGS) technology was relatively new, Dr. Paula Henthorn at the University of Pennsylvania, with whom we have been working on this problem, sequenced a cystinuric Deerhound to look for the genetic mutation so we can develop a genetic screening test for this disease. Unfortunately, nothing obvious was found. WGS technology is a lot better now (and less expensive, too), so we want to sequence two more dogs to look more deeply for the mutation. Cystinuria mutations have been found in seven breeds to date, and all have been found on one of two genes, which is also where human cystinuria mutations are found. So we want to take a closer look in and around these genes.
Secondly, Dr. Henthorn has been working with the H&G Committee for years to gather DNA samples. We have encouraged the owners of stone-forming dogs to send DNA to Penn. We have also had a program at specialties where we test dogs for cystinuria for free as long as we can also send DNA. And not only have we sent Penn DNA from Deerhounds that have been tested for cystinuria, we have also used Penn for our Factor VII testing (explaining to the owners that the blood will also be used for research), so that sends more Deerhound DNA to Penn. Now Dr. Henthorn is ready to go through that DNA, get updates on the dogs’ health, most particularly their cystinuria status, check it against her records and pedigrees, and do follow-up testing on some of these dogs.
Many people test their dogs once, when they are young, and never test them again. As a result there is a lot we don’t know about how this disease is expressed in Deerhounds. We want to follow up on some of these dogs now to find out what happens to dogs over time. We will also identify family members of affected dogs we may want to test.
You can read the entire project proposal and find more detail on the project here.
The total for all of this work is $12,269, and we are fundraising for this amount now. Although cystinuria is usually a preventable and treatable disease, both the prevention and treatment is neutering, thus removing these dogs from the gene pool. As 30% of all intact male Deerhounds test positive for cystinuria, and almost 80% of those dogs will form stones, you can see what a huge hit this is to our breed. And if stone formation is not caught early, cystinuria can be lethal. Breeders are ripping their hair out trying to find lines without it. And owners, who stand out in all weathers while they make sure their intact male dogs are peeing OK, will thank you.
We are also fundraising for an osteosarcoma project. Please note that all fundraising activities must end on December 31, 2016.
HOW TO DONATE
If you donate by January 15, 2017, you can make a tax-deductible* donation directly to Penn by using this link.
Or you can mail a check, made payable to “Trustees of the University of Pennsylvania,” to:
Dr. Paula Henthorn
Ryan Veterinary Hospital, Rm 4030
University of Pennsylvania
3900 Delancey Street
Philadelphia, PA 19104
Penn qualifies for matching gifts, so if your workplace offers a matching gift program, please consider this project.
PLEASE NOTE: PENN VET SCHOOL TAKES A 20% ADMINISTRATIVE FEE FOR ALL DIRECT DONATIONS, SO 80% OF YOUR DONATION WILL GO TO THE PROJECT AND 20% TO THE VET SCHOOL GENERAL FUND. THE ENTIRE GIFT IS TAX-DEDUCTIBLE.
The tax-deductible donation option will not be available after January 15.
* Gifts are tax-deductible as allowed by law; please consult your tax advisor.
If you prefer, you can make a donation to the SDCA’s Bunny Austin Fund (please note: donations to the Bunny Austin Fund are not tax-deductible). All of your donation will go to the project. You can “send money” via PayPal to the SDCA Treasurer: deerhound.ah “at” comcast “dot” net; just be sure to put “Cystinuria Study” in the notes section.
You can also make a BA Fund donation through the Deerhound Store.
Or you can mail a check, made payable to the SDCA, to
486 Rowe Mountain Road
Bradford, NH 03221
Please donate as generously as you can.
Unless you prefer to remain anonymous, which will of course be respected, if your donation is received by December 31, 2016, it will be acknowledged in the March/April 2017 issue of the Claymore. You are welcome to donate in honor or memory of a person or a dog.