Australian Shepherd Health & Genetics Institute

Australian Shepherd Health & Genetics Institute

Generic selectors
Exact matches only
Search in title
Search in content

Not Always Clean And Simple

Science can help, but the rest is up to us…

Aussie  Muddy Pup Montiby C.A. Sharp

First published in Double Helix Network News, Spring 2007, Rev.  May 2013


In a perfect world, once people in a particular breed recognized an inherited health problem, they would find an interested scientist who would then provide the breeders with specific information on how the disease is inherited and a DNA test that allows them to screen breeding stock for carrier status.  Unfortunately, life is seldom so clean and simple for dog breeders or scientists.

Recently I had a conversation with a breeder who was unhappy because a particular researcher “didn’t come through” on a project of great interest to her.  She was skeptical that any project done at this researcher’s institution should be supported.  His failure to develop a wanted study made him untrustworthy in her eyes and put an onus on the university where he works.

The rapid advance of canine genetics and veterinary medical research in recent years has put the worlds of purebred dogs and scientific research in much closer proximity than ever before.  Most of us know little about the inner workings of the scientific research community.  It is easy to become frustrated when a much-wanted project doesn’t flow smoothly, or perhaps fails to flow at all.  It is the breed community’s responsibility as individuals and, most importantly, clubs and breed health organizations, to make sure we have done everything we can to move research projects of interest toward successful conclusions.  That means not only supporting the research effort but doing our homework before making commitments.

Research projects can go astray for numerous reasons beyond our control.  However, if we become better informed about how the process works we can avoid investing too heavily in a project that is iffy.  We also need to gain better understanding of our responsibilities as providers of data, samples and financial support.

What Happened?

A research project may not produce the outcome we desire for any number of reasons.  Some problems prove extremely difficult to solve, no matter how much data and samples, money and effort have been invested.  Hip dysplasia is a common and serious problem in many breeds of dog.  Thus far, science has given us a better understanding of the environmental influences on the disease and provided surgical treatments that can improve quality of life for the more severely affected dogs.  However, we still have no way to screen breeding stock for HD genotype so we can stop producing dogs that have it.  The complex genetics of HD and the influence of environment on gene action has thus far been too tangled a knot for researchers to untie, but not because they haven’t tried.

To date, the only polygenic puzzle that has been partly put together is  cardiomyopathy in Dobermans.  Researchers were able to determine which genes were functioning abnormally in the heart tissue of affected dogs.  Even so, there still isn’t a screening test.  The disease develops in adult dogs when genes that formerly worked properly cease to do so.  Science must discover why this starts to happen before Doberman breeders can hope for a test that will identify affected dogs before they become ill or let them know which healthy dogs are carriers.

Our expectations of science must be reasonable, based on the current state of knowledge and technology.  For some things we need to plan for the long haul.  Someday we will have genetic screens for HD and cardiomyopathy, but it isn’t likely to happen in the near future.

Money Money Money

The best research project in the world won’t go anywhere if the researcher can’t get the money she needs to do the work.  Good science is expensive.  Even the most dedicated dog organizations may not be able to fully fund an important project.  If other funding isn’t available the work may not go forward.  Marshaling our forces by forming alliances with other breeds or organizations may enable us to achieve our own breed’s goals.

With luck, the researcher may already have financial support from government, corporate or other private sources.  If not, or if she has only acquired a portion of what she needs for the project, your breed may need to go into the fundraising business.

For a small project, this may be simple.  Breed groups can rely on the same tactics they have successfully used to raise money for rescue or scholarships.  Larger or more complex projects will be more expensive.  Adequate funding might be raised if your breed organizations team up with their counterparts from other breeds that share your interest in the subject under study.  For a common canine disease, like hip dysplasia, forming partnerships shouldn’t be too difficult.  However, if the subject of research is found only in a few breeds or, worse yet, is specific to your breed alone, you may need to look beyond single-breed organizations to larger organizations with broader focus.

Working cooperatively with granting agencies is an excellent way to increase not only the ability to fund a project, but to better ensure the viability of the project itself.  There are numerous private and public granting agencies.  Most focus on a particular area of science, a single disease or one or more species.  The AKC Canine Health Foundation and the Morris Animal Foundation are both are dedicated to funding animal research, with CHF devoted exclusively to dogs. Working with a granting agency can help you assure that the money your breed provides is used as you intended it should be.  In a recent conversation I had with an executive of a high-profile canine health organization, the executive remarked that even his organization teamed with granting agencies because they lacked the staff and in-house scientific expertise to review and administer grants.  This is the case for almost all breed clubs and breed health foundations, too.  Recognizing your own limitations and arranging for qualified professional assistance makes it much more likely your hard-earned dollars will bear fruit.

A sample of this, a sample of that

When it comes to research, one of our primary jobs in the purebred community is to provide the researcher’s raw materials—data, samples, and sometimes even dogs.  Exactly what is needed will depend upon the researcher’s needs.  Surveys, clinical studies and molecular genetics research have different requirements.

Surveys will be data-based.  Breed organizations frequently conduct their own surveys, either in-house or by hiring a researcher to gather and analyze the data.  Sometimes a researcher will initiate his own data-based project.  Information may come from vet schools, private practice vets, breeders and owners, other sources, or some combination of these.  If data is requested of dog clubs or individuals, the breed club and health organizations should do what they can by way of education, promotion of the project, and encouraging participation to assure the data provided is as complete and accurate as possible.  Results of a data-based study will be of greater value if the number of responses is statistically significant, either through percent of total breed population represented, or through its demographic breakdown.

Getting large numbers of responses can be difficult, particularly if the amount of information required is voluminous or complex.  Mailers may be ignored for as many reasons as there are people on the mailing list.  Internet-based submission can increase response but may skew it toward a particular group of respondents.  Before a project begins, a great deal of thought needs to be given to how to reach potential respondents most effectively.

Demographic issues can go beyond the computer savvy of the breed community.  If a club publicizes a study only among its members and the majority of owners and breeders are not members, the resulting data may be limited in volume, represent only a subset of the breed population, or, worst of all, not be sufficient to provide useful information.  If a breed has significant subdivisions, as between function-bred and conformation lines, odds are the enthusiasts of one sort do not pay much attention to the publications aimed at the other.  Promotion of studies needs to encompass media that will reach as much of the breed as possible.

One of the most frequent research requests nowadays is for DNA samples, usually in the form of blood or cheek swabs.  Swabs are easiest to accumulate because almost anyone can do them.  Blood samples provide much more genetic material and almost indefinite storage capability, but they usually require a vet visit and that the dogs undergo an invasive procedure, albeit a minor one.  Depending on the needs of the research project, a particular form of sample submission may be required.  If blood samples are called for, the club or health organization may need to mount an education campaign to explain why swabs cannot be used.  Participation can be encouraged and improved by hosting and promoting clinics at major breed events.

If there are multiple genetics projects involving your breed, people may tire of providing samples over and over again.  The ideal way to address the need for samples is a long-term DNA “banking” system.  With a DNA bank, samples and associated pedigree and health data can be kept on file against future need.  Only one sample per dog will be needed.  The stored sample will remain available indefinitely.  A dog may provide a significant contribution to an as-yet unanticipated study many years after it has died.

Several individual breeds have set up their own DNA banks, but this system depends on regular and on-going breed club administration of the sample collection.  Most clubs are governed and operated entirely by volunteers and do not own any permanent facilities where records or samples may be stored.  An in-house program can be subject to shifts of interest or the loss of one key individual.  A system that does not require frequent involvement by already busy club officials is preferable.  The Canine Health Information Center, jointly operated by the Orthopedic Foundation for Animals and the CHF, established a DNA Repository for all CHIC-qualified breeds.  Participation in CHIC is voluntary and open to any breed club, including those that are not AKC recognized.  At present there are over 150 breeds participating.

The program is relatively new, but made the first distribution of samples in 2007 for a study of mast cell tumors in Golden Retrievers and more have followed since.   Into the future, more grants of samples from individual breeds and groups of breeds will be provided to researchers and the fruits of this effort will benefit our dogs, both through improved clinical practice to aid the ill and more DNA screening tests that will enable breeders to avoid producing affected dogs altogether.

Anyone with a CHIC breed can submit samples (blood or swabs) to the CHIC DNA Repository.  Ultimately, they plan to have an on-line password accessed database that will allow owners to update their dogs’ records at need.  The long-term benefits of this effort, to both the dog and research communities, are immense.  By encouraging participation, clubs and breed health foundations can make sure needed samples are available while at the same time greatly reducing “sample fatigue.”

An additional benefit of the CHIC DNA Repository—something that can be difficult or impossible to achieve with samples submitted to individual researchers—is long-term participation by the breed club in decisions on when and how samples are to be used.  Samples given to specific researchers may be used up during the course of the study.  If there is residual material, it may be discarded once the work is complete.  Material gathered may not be kept if the researcher cannot get sufficient samples to proceed and moves on to something else.  If submissions are abundant, the researcher may choose to use them for other projects or send them on to other researchers either before or after working on the project of interest to your breed.  Your club may not even be aware this is taking place.  If this is going on and circumstances prevent the researcher from tackling your breed’s issue for an extended period of time, the sample collection may dwindle to the point where more will be needed before work can proceed.

Unless your club or health organization has a specific contractual agreement with a researcher about how the samples are to be managed, there is little you can do should a project fail to materialize or bear fruit.   Use of a DNA bank can prevent this from happening because each researcher will only receive the specific samples required for her project and only after review and approval of a request for those samples.

Improved technology has reduced the need for donation of live animals to research.  However, clinical studies of a particular disease may require participation by live dogs.  Often the dog may remain with its family, making periodic visits to the research site or the office of a cooperating veterinarian.  If the project requires donation of live dogs to the study, the breed club or health organization should know how the animals will participate and what their fates will be upon completion of the project before agreeing to support it.

Personnel Management

Like most of us, scientists are usually employees.  They have to answer to superiors who may rearrange their priorities.  They will also have other projects and duties that may take precedence over your breed’s project.

Thanks to the wonder of Internet search engines, it isn’t difficult to learn something about a scientist whose work you may want to support.  You will often find a bio and list of a researcher’s citations (published research) on the website for the university or laboratory where he works.

How long has the researcher been working in the field?  Long experience, including canine projects, is a plus.  However, a young doctoral student or post-doc (someone who has recently completed a PhD but is still studying) may have enthusiasm and a will to prove himself that an older, established researcher may lack.

If the researcher has been around for a while, what projects has she completed?  Did it concern dogs?  Is that work recent, or has it been several years?  Was she principle investigator, or a collaborator?  If a principle investigator, how recently did she serve in this capacity?  If a collaborator, can you determine whether she did substantive work on the project or merely provided previously gathered samples or data?  If she works in an academic setting, has she advanced to the level one would expect for her years of service?  Answers to these questions may indicate how viable the efforts of that person are apt to be.

Another thing to consider is whether a researcher has made a major mark in his field.  Having a star performer involved in your breed’s project can be a very good thing.  The top people attract the best staff and work at the best institutions.  They attract funding.  But they also have their pick of projects, are very busy, and may not find your project compelling.  There are many excellent researchers who have not achieved star status (or may not want it!) who could give your project more time and attention than a Big Name is able to provide.

Due Diligence

Science has provided tremendous gifts for the benefit of our dogs and will continue to do so into the future.  It is our job, as members of the purebred dog community, to make sure we understand the process, get to know the players and provide the necessary resources, in the form of data, samples and/or money, that will allow science to continue giving us the answers we need for breed health issues.

Complaining about a particular study that went awry and laying blame on a researcher or institution will not produce results.  When a study doesn’t pan out, we need to take a dispassionate look at how it happened, what we could do better, and carry on in our effort to find and support a project that will bear fruit.