(A Guide for Breed Groups who are Interested in Specific Studies for their Breed)
Breed-related studies may be sponsored by any breed club, breed council, or organized group of breeders. These breed-related studies may be for health problems known to have a genetic basis (including both single gene traits and more complex traits) as well as diseases and disorders that may not have a genetic component.
Geneticists have successfully identified mutations that cause disease or abnormality in some breeds of cats (for example, the mutation responsible for polycystic kidney disease in Persian cats and a mutation responsible for hypertrophic cardiomyopathy in the Maine Coon cat). Once the mutation is identified and proven to cause disease in a particular breed, a test may be developed to identify the mutation in any cat of that breed. The same disease may be caused by different mutations in different breeds. Therefore, each breed may require separate investigation for a given genetic disease, even when a mutation has been identified in another breed.
Breeders naturally want to have researchers help them investigate certain diseases in their breed. It is important for the success of any research project that a coordinated effort between breeders and researchers is organized.
Winn can play an important role in facilitating these studies. These guidelines are intended to help breeders understand the process of breed-related studies and to help these studies go forward as quickly and effectively as possible.
How does Winn fit in?
The Winn Foundation is a registered 501(c)(3) non-profit organization. When we fund a study, no overhead expenses are covered by the monies we grant. All of the money goes directly to the research. If a breed group submits money directly to a University, nearly 50% overhead expenses may be charged, so the money is effectively cut in half.
Winn also
- Helps breeders define the project
- Sets up a stipulated breed-related study fund to hold donated monies
- Sends out a special request for proposals to researchers
- Evaluates competitive proposals with our scientific reviewers to see that they meet our funding requirements, including good science, frugal use of the funds available, scientific credentials, and the experience of the researchers, availability of personnel and facilities, etc.
- Assures that no overhead expense is charged to the project
- Accepts donations that may be tax-deductible
- Will match the first $5000 up to a maximum of $7500 of funds donated for breedspecific studies from our general donation fund.
How do I identify a problem in my breed?
Breeders may have many issues and concerns about the health of their cats. Some may be common within a breed, while others may be limited to specific family lines. The first step is for the interested breeders to appoint a Breed Group Representative (BGR). The BGR may be a Breed Council Secretary, an independent breed chairperson, a breed club member or other trusted person within the breed. The BGR must be willing to organize breeders (worldwide, if possible) to gather data. Data requiring collection might include:
- Identification of potential affected cats as well as non-affected relatives
- Individual cat identification (e.g., registration number or microchip number)
- Cat signalment (e.g., age, gender, reproductive status)
- Clinical signs, age at onset
- Pedigree
- Relevant medical records (e.g., diagnostic tests, biopsy reports, necropsy reports, imaging reports, etc.)
Once a significant number of examples have been gathered by the BGR, the information can be presented to a researcher who has undertaken similar studies or has a particular expertise in the area in question. Winn can facilitate the review of the data through our research contacts around the world. This review of the data may determine if the problem is appropriate for study. This review helps to define the type of study that maybe needed.
How does my breed find a researcher?
The Winn Foundation works with breeders and researchers to see who is most qualified and available to work on a specific project. There may be several researchers or labs around the world who would work on your project. Winn requires researchers to submit a proposal for review by the Winn Board and our scientific advisors. This helps ensure that the best proposal is awarded a grant and the money committed by breeders is used most effectively.
The BGR should contact Winn as soon as a health issue is identified that may be a candidate for a breed-related studies. Our breed-related studies liaison will work with the BGR and researchers to prepare for submission of a grant proposal.
How do we raise enough money to have the project sponsored?
It takes millions of dollars to run a lab and investigate diseases. Funding a breed-related project often requires that funds be raised by breeders to complement funding available from Winn. Health problems and genetic diseases that are identified in the cat may also apply to humans and other animal species. Based on preliminary studies funded by Winn, researchers often apply to other funding agencies for larger grants to do further work on these projects.
A stipulated fund can be established with Winn to receive donations for breed-related projects. The BGR must work with the Winn liaison to ensure donations are properly identified, received, and acknowledged in an efficient manner. A form has been devised specifically for donations intended for stipulated funds and this form should be used whenever possible (see Attachment 1). Donations made on-line should be designated using the correct stipulated fund option.
Your breed group can raise money through a website, by mail, with auctions, and raffles (conducted on-line or a cat shows or seminars), as well as through solicitations to breeders (including related breeds). When issues affect more than one breed, Winn can facilitate joint breed-specific projects.
What is the minimum amount to fund a study? How much will Winn contribute?
The minimum amount to fund a breed-related study is $15,000. Winn will match at least the first $5000 raised by raised by breed groups for their project, using money in our general donation fund. A maximum of $7,500 per year in matching funds will be available for each breed-related project. The amount of matching funds available from Winn will depend on factors such as the number of breed-related projects ready for funding in a given year as well as the amount of monies available in Winn’s general donation fund.
There is no cap on the amount of money that may be granted for a breed-related project; these studies are not subject to the usual grant limit of $15,000. The only limit is the amount of money that a group of breeders is able to raise for a given project.
- It is important that the BGR instruct donors to indicate donations are for the specific breed-related study fund.
- Donations may not be credited to the correct fund if Winn does not know the intention of the donor.
- Winn strongly recommends that each donation be accompanied by the donation form at the end of this document (attachment #1)
When are proposals reviewed?
Winn has two proposal review cycles. The main proposal review is the first weekend in February. At this time, many proposals from research institutions around the world are reviewed, including breed-related studies. The other review takes place in September. This proposal review is focused on a specific fund (The Miller Trust) that allows us to recommend projects annually for funding from a specified list of research institutions (see Attachment 2). Breed-related projects submitted from the designated list of institutions could be received and reviewed then. At these proposal review meetings, our scientific consultants and the Winn Board review and evaluate each proposal to decide on the projects that are the most worthy of funding. Special consideration is given to breed-related studies when sufficient funds are available from a combination of the monies in the stipulated fund and monies available from the Winn general donation fund.
When the study is funded, the researcher is required to send progress reports to Winn at the end of each calendar year. These reports are available for the BGR. Winn also works with the breed groups to have the research results made widely available to all breeders interested in the study.
What happens if all of our money is not spent right away?
Sometimes more money is collected than is spent in the first round of funding for a breed-related project. The money is then saved in the stipulated fund and used for subsequent rounds of funding for the same project. Often two or more rounds of funding are needed to complete a project. If breed-related project money is not granted within 5 years of collection, the money donated will revert to the Winn general donation fund to be utilized for other studies.
What happens after the proposal is accepted?
After a grant for a breed-related is awarded, breeders may be asked to submit samples (such as DNA samples), pedigrees, and medical reports to the investigator who is doing the study. You may be asked for samples from related but unaffected cats in your pedigree. Cooperation of breeders is often an essential component for the successful outcome of a research project.
How do I get in touch with Winn?
You may contact our Executive Director:
Janet Wolf
The Winn Feline Foundation
293 Landing Road
Newport, NJ 08345
Phone: 856-447-9787
Email: winnfeline@aol.com
You may also contact our breed-related studies liaison:
Hilary Helmrich
The Winn Feline Foundation
3719 N 159th Avenue
Goodyear, AZ 85338
Phone: 623-866-2100
Email: hilaryh@aol.com
Attachment 1: Stipulated funds donation form
Winn Feline Foundation
Breed-Related Stipulated Donation Form
Enclosed is $___________* for the following Breed-Related Study (please circle one):
- HCM in Ragdolls
- HCM in Sphynx Cats
- HCM in Norwegian Forest Cats
- Mediastinal Lymphoma in Oriental Shorthairs
- Mammary Cancer in Siamese Cats
Please make check payable to: Winn Feline Foundation.
I prefer to charge my contribution to my VISA/Mastercard/American Express (please circle one):
Card # ___________________________________________ CID# _______ Exp Date ___________
Amt $__________ Signature:__________________________________________________
______________________________________________________________________________
Name ______________________________________________________________________
Street Address ____________________________________________________________
City State Zip ____________________________________________________________
Email Address _____________________________________________________________
Optional: This donation is being made in memory of: ________________________________
Please notify:
Name ___________________________________________________________________
Street Address ____________________________________________________________________
City State Zip ____________________________________________________________________
*Winn is a 501(c)(3) non profit; therefore your gift is tax-deductible to the extent permitted by law. Please mail this form with your donation to:
Winn Feline Foundation
1805 Atlantic Ave
POB 1005
Manasquan, NJ 08736-0805
732-728-9797 xt 31
or visit our website: www.WinnFelineHealth.org
Status of Breed-Related Studies
June 2006
Hilary Helmrich
This document is a brief status report of the breed-related studies underway or planned by researchers. The document was compiled with the help of Dr. Leslie Lyons and Dr. Kate Meurs as well as some breeders and published papers.
Burmese Craniofacial Deformity
The region of the gene mutation has been identified at University of California, Davis (UC Davis). Dr. Lyons’ laboratory at UC Davis reported on this genetic mutation at the recent Third International Advances in Canine and Feline Genomics Conference held in August 2006. Their studies have identified which chromosome, and, which part of the chromosome has the mutation for the craniofacial defect. A number of candidate genes have already been tested and rejected; work is on-going in the remaining candidate genes. The goal is to identify the specific site of the mutation and develop a gene-based test for it. Dr. Lyons thinks that it will be a year until the actual mutation is identified and a test is available.
Meanwhile, some breeders are working with Dr. Jerry Bell, Tufts University, to outline options for breeders to reduce the prevalence of the defect in their breeding lines.
Pyruvate Kinase Deficiency (Abyssinians and Somalis)
This deficiency, first found in Abyssinians and Somalis, is associated with hemolytic anemia and is inherited as an autosomal recessive trait. The genetic mutation has not been identified, but enzyme analysis to detect affected cats is currently available from the University of Pennsylvania. Contact Urs Giger, VMD at the University of Pennsylvania or go to their website.(http://w3.vet.upenn.edu/research/centers/penngen/services/index.html)
Hypertrophic Cardiomyopathy in Maine Coon Cats
One genetic mutation that causes hypertrophic cardiomyopathy in Maine Coon cats has been identified and a test is currently available from the University of Washington (Dr. Meurs lab: www.vetmed.wsu.edu/deptsvcgl/). Dr. Jerold Bell is providing genetic counseling for several Maine Coon breeders of affected cats.
It is important to remember that this is a test for one mutation in one breed of cat. There could be other mutations in the Maine Coon that could cause other forms of hypertrophic cardiomyopathy. In addition, if other breeds are tested, a negative result is only negative for this specific gene mutation (for Maine Coon cardiomyopathy). Researchers are currently trying to determine what mutations cause this affect in other breeds of cats.
Cardiomyopathy in American Shorthair Cats
Several years ago Winn funded the work by Dr. Kittleson, Dr. Ware, and Dr. Meurs on hypertrophic cardiomyopathy in American Shorthair cats. The mutation has not been identified. The samples that were taken from affected cats at that time have been stored. This summer at the University of Washington, Dr. Meurs tested those samples, along with other breeds, and did not identify the Maine Coon mutation in this breed.
Hypertrophic Cardiomyopathy (HCM) in Ragdoll Cats
Samples, pedigrees, and echocardiography results have been sent to Dr. Meurs at the University of Washington by Ragdoll breeders. She is currently working with those samples and recently completed the evaluation and exclusion of one more gene. Additionally, it is clear that the HCM mutation in Ragdolls is not the same as the one found in Maine Coons. While 10 genes are known to be affected in humans with HCM, researchers have already identified over 200 mutations so far. The researchers speculate that a different gene is responsible for the cardiomyopathy in Ragdolls.
Hypertrophic Cardiomyopathy in Norwegian Forest Cats
While Dr. Meurs was testing the Ragdoll cats, she performed tests on 5 Norwegian Forest Cat samples that had been sent to her. Results showed that the mutation for the Norwegian Forest Cat is not the same as the one for Maine Coons. Dr. Meurs will be working on a Winn Foundation proposal for funding for this study. In the meantime, she asks that breeders send her documented cases of cardiomyopathy.
Documentation needed includes a pedigree, blood sample, and an echocardiographic analysis on the affected cat. These can be sent to Dr. K. Meurs, WSU-CVM, Dept Vet Clinical Sciences, Pullman, WA 99164 (Meurs@vetmed.wsu.edu)
Hypertrophic Cardiomyopathy in Sphynx Cats
The Sphynx breeders report that they see hypertrophic cardiomyopthy at an early age, affecting kittens up to the age of 12 weeks, and a later onset that affects adults. Documentation does not yet exist to prove two different forms of HCM. At the moment there is no confirmed early onset form of HCM in Sphynx cats although several cases of congenital heart defects have been seen.
Several samples have been sent to Dr. Meurs; however, only one adult Sphynx was confirmed as having hypertrophic cardiomyopathy. The cat’s sample has been tested and the Maine Coon mutation was not found in the cat.
The other samples received by Dr. Meurs were not from cats with hypertrophic cardiomyopathy. DNA collection tubes have been sent to several Sphynx owners. Meanwhile the Sphynx breeders are collecting money for the cardiomyopathy study of Sphynx cats and should continue to send samples. The samples need to be accompanied by a pedigree and by an echocardiogram. Dr. Meurs will be submitting a proposal for review by the Winn Board next February.
Sphynx Gene(s) for coat
Dr. Lyons’ group has been working to define genes for coat colors and patterns. The Sphynx breeders have identified three coat types in their breed – fully coated, chamois (suede) coated, and no coat. Breeders are invited to send cheek swabs with pedigrees and coat description to Dr. Lyons. To assist her group’s efforts to identify the related genes, she would like samples from all three types of coat.
Leslie A. Lyons, PhD
Office: (530) 754-5546
SVM:PHR
1114 Tupper Hall
One Shields Avenue
University of California, Davis,
Davis, CA 95616
Lysosomal Storage Disease in European Burmese Cats
GM2 gangliodosis has been identified in the European Burmese. The mutation causing this recessively inherited lysosomal storage disease is not one of the 3 previously identified mutations. Dr. Baker and his colleagues at the Scott-Richey Research Center have identified the European Burmese mutation. His team will be seeking funding to develop a molecular test suitable for large scale screening of cats.
Similar lysosomal storage diseases have been seen in Siamese, Korats, Norwegian Forest Cats, and other pedigreed breeds. This abnormality is seen most often in kittens that are born normally but fail to thrive. Seizures, exercise intolerance, and visual defects are some of the common signs. The deficiency of this enzyme ultimately is fatal to the cat. Dr. Henry Baker spoke with the European Burmese breeders at the CFA Annual Meeting in Reno (June 2006).
Dilute Color Genes
The mutation causing coat color dilution was recently discovered and published by the lab of Dr. Stephen O’Brien (Laboratory of Genomic Diversity, NCI). The July 20, 2006 issue of Genomics carries the announcement. Dr. Lyons’ lab is also working on the site(s) for dilution and will be analyzing some of the cats with variations in their dilution patterns.
Polycystic Kidney Disease in Persian Cats
Dr. Lyons Group is continuing their work on PKD in Persians and Himalayans. The test is available for a fee through the Veterinary Genetics Laboratory (www.vgl.ucdavis.edu) at University of California (Davis). Recently, Dr. Lyons has had requests for testing of cats not related to Persians. She reminds us that if she tests a cat of another breed with the Persian PKD test, a negative result only means that the cat does not have “Persian PKD”. It could have another form of PKD or be negative. Dr. Lyons and VGL work together to perform the testing in the non-Persian breeds. Swabs and ultrasound data from non-Persian breeds should be directed to Dr. Lyons for testing. Non-Persian cats will be tested for free if ultrasound information can also be obtained.
Dr. Jerold Bell has rewritten his article, “The Proper Use of Genetic Tests” to make it specific for PKD testing in Persians and has been providing genetic counseling to several individual breeders.
Progressive Retinal Atrophy in Persian Cats
Progressive retinal atrophy (PRA) has been seen in several cat breeds, most notably in Abyssinians and Somalis many years ago. It has now been confirmed in Persians. Dr. Lyons has a breeding colony of these cats and also welcomes samples (cheek swabs) with pedigrees and eye consult reports from affected cats. The onset of this problem occurs rapidly in the kitten and progresses until the animal is blind by 12 – 16 weeks. Persian PRA is not associated with any specific colors or patterns, such as chocolate or points. All Persian cats are at risk. The disease is inherited as a recessive trait and the chromosomes carrying the genetic mutation has been identified, although not exact mutation itself.
Mediastinal Lymphoma in Oriental SH Cats
This form of cancer has been found in Oriental Shorthair and Siamese cats. Dr. Lyons at UC Davis has collected samples and affected cats. She does not yet have enough samples or affected cats to proceed with the work of identification of the genetic mutation. She needs additional samples from families affected with the mutation and specifically from cats with confirmed mediastinal lymphoma. Until more confirmed cases and related samples, the research will proceed slowly. Breeders can contact Dr. Lyons directly for cheek swab kits. Be sure to include pedigrees with each sample. Breeders have been supporting the research by donating money to Winn.
Mammary Cancer in Siamese Cats
Donations from Siamese breeders were used to fund a study in 2004 on a new drug to treat feline mammary cancer. This study is still in progress, having been extended to March 2007.
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