When Worlds Collide: Purebred Dogs and Genetic
Winner of the 2003 DWAA Maxwell Award for "Best Subject-Related
Series in a Magazine."
First published in two parts in Double Helix Network News, Spring and
Summer 2003. Reprinted in the Aussie Times, Nov-Dec 2003.
By C.A. Sharp
An experienced breeder gathers volumes of data and writes to a researcher;
she never gets a response. An owner with a sick dog and disposable income
offers thousands of dollars for research and no one seem interested. A
breed health advocate documents a common inherited problem only to be told
by a board certified veterinarian, "That doesn't happen in your
These true incidents exemplify the frustration dog people sometimes
experience interacting with the research community. The author has worked
with a number of researchers in canine genetics and hereditary disease and
networked with numerous breed health advocates. The discussion that
follows is drawn from our successes as well as our failures. I hope it
will help you understand the research process and enable you to avoid
common pitfalls that lead to misunderstanding between the research and dog
The dog world and the world of genetic research revolve around stars
sometimes light years apart. If we in dogs are to interact successfully
with geneticists and research veterinarians we need to study their world
so we can understand how they work, what issues concern them, and how we
can best facilitate their efforts.
Things that seem important to us may not be fruitful avenues for current
research. The minutiae of breed type and behavior often cannot justify the
time, effort and expense required to determine their inheritance on a
molecular level. Adequate research funds are not likely to be available
for the esoteric details of canine structure and breed type. Most
researchers don't breed, work or compete with dogs. They may be utterly
baffled by why we think some things important. Just as we don't always
understand their jargon, they may be confused by ours. No one will
investigate a trait he cannot understand and may be unable to recognize.
Even a disease won't always provoke immediate scientific enthusiasm. In
order to gain acceptance scientific discoveries must be published in
peer-reviewed journals or, in recent times, result in patents or produce a
marketable test. We in Australian Shepherds knew by the mid-1980s we had
Collie Eye Anomaly in our breed. However, no researcher had yet
investigated and published it. Lack of a reference led some veterinary
ophthalmologists to tell breeders CEA didn't occur in Aussies.
Even after publication the process isn't necessarily final. Other experts
may disagree. When a study of CEA in Aussies was finally published (Rubin,
et al 1991) there were those in the research community who disagreed with
some of the conclusions. The article provoked a spirited rebuttal in an
editorial appearing in the same journal issue. Researchers debate canine
genetics with as much fervor as any group of dog breeders. Until the
scientific dust settles on a disputed point, breeders must rely on their
own experience and the best current scientific information available.
However, we must resist the temptation to subscribe to the viewpoint that
is most convenient to our personal breeding plans.
One of the hallmarks of scientific investigation is that no theory, no
matter how well established, is immune from reasoned debate. Given
sufficient compelling evidence, a generally accepted view will change.
Sheila Schmutz of the University of Saskatchewan, studied a gene called
melanocortin receptor 1 (MC1R) which is the same gene Clarence Little, an
early researcher in canine color genetics, referred to as "E."
Little proposed that in addition to versions of E that resulted in black
or yellow (fawn) dogs, one type produced the brindle pattern and another
produced black masks such as are seen in Mastiffs and Great Danes. This is
the model that dog breeders have long used for the inheritance of mask and
brindle. But Little worked long before scientists were able to pick apart
the molecular structure of individual genes; his conclusions were based on
breeding trials. Using DNA from a litter of Great Danes and their parents,
Schmutz found that a certain version of MC1R could clearly be tied to the
mask pattern, but none correlated with brindle. Little was right about
mask but erred concerning brindle. As of this writing no one knows what
gene causes it.
Sometimes these winds of scientific change slam hard against the monolith
of purebred dogdom. We operate in a world steeped in tradition. Our
actions spring from a body of knowledge handed down from one generation of
breeders to the next, often in the form of oral history. We must be
willing to set aside what we have believed for decades when new science
demonstrates our viewpoint has been flawed. This isn't easy to do. Recent
discoveries about gene function and interactions as well as the long
established but unfamiliar principles of population genetics stir heated
debates and fierce resistance from dogdom's traditionalists. Likewise
scientists tend to put more stock in published findings than breeder
information and if the two don't match, the breeder's idea will not be
taken seriously. We need to do our homework. Acknowledging that
"although Smith (1980) found that........, our data suggest this is
not always the case in our breed" may make scientists take breeders
more seriously from the outset.
The current state of genetic science may impede getting answers to some of
our questions. After nearly a century of canine research, many single gene
traits have been described and their mode of inheritance established. Any
dog breeder worth his salt understands the genetics of this type of trait
and can apply that knowledge to the betterment of his breeding program.
But many issues of inheritance that puzzle us today are tougher nuts to
Recently, researchers at the University of California, Davis, asked a
group of breeders what we wanted to have studied with the ultimate goal of
developing screening tests. Our list consisted of diseases that are
polygenic or which result from an interaction of genes and environment.
Complex traits are difficult to pin down at the current state of the art;
screening tests will be a long while coming. Even so, we should keep
asking because someday science will be able to tackle them. In the
meanwhile, we need to concentrate on issues that are genetically simple
and with which the researcher can have reasonable hope of success.
As with so many other aspects of life, money can be a problem. Research
goals often include finding the responsible gene. Doing so bears a big
price tag. A huge donation, from our point of view, might be totally
inadequate. Mark Neff, of Davis' Veterinary Genetics Laboratory, pointed
out that laboratory consumables for a single researcher can cost about
$2000 per month. Salaries of the people working on the project raise the
monthly cost even higher. A successful research project, from initiation
to publication, costs around $200,000. While the work is expensive, there
are ways to maximize your contribution and make effective use of your
money that will be discussed later in this article.
Prior to starting a project, the researcher will find out what is already
known. He will determine whether anyone else is working on the topic.
Another project in progress won't necessarily mean the end of yours, but
knowing who else is interested may suggest a different approach or lead to
collaboration. Or sound the gun on a race that can generate as much
excitement as any contest between coursing hounds. Parallel genome
sequencing projects conducted by the publicly supported Human Genome
Project and Celera Genomics, a commercial lab, generated scientific
enthusiasm and considerable media attention.
With groundwork laid, data gathering can commence. If the mode of
inheritance is unknown, necessary data may be pedigrees of animals
exhibiting the trait combined with photographs, screening reports, lab
results, or other documents. These will be used to develop genealogies
that illustrate patterns of inheritance. If a probable mode is identified,
test matings may be done to confirm it. For decades, all studies of
inheritance used this type of data and analysis. Today it's possible to
find the responsible gene and this is often the preferable approach.
To accomplish this breeders and owners must provide not only demographic,
pedigree and diagnostic information, but DNA samples as well, usually in
the form of a cheek swab or blood draw. The samples cannot come from just
any dog, but must be drawn from affected animals and their closest kin.
Which dogs qualify depends on the protocols developed for the project.
Submitting samples that don't meet the protocol wastes time and money.
Science is unpredictable. As a project develops it may hit a snag or some
finding may require a change of focus. The researcher will not be able to
provide a hard estimate for a completion date and may or may not be able
to provide an estimated timeframe. If the project isn't very complex and
everything goes smoothly, a year might suffice but it may also take many
years. Researchers don't want to discourage people with a lengthy
projection or mislead with one that is overly optimistic. They may be
uncomfortable committing to a schedule which circumstances could prevent
them from keeping. Finding genes involves elements of looking for a needle
in a haystack. Even with a big magnet, the researcher may need to probe
from several directions before he finds that needle.
Most dog studies won't be the only thing a researcher is doing. Higher
priority projects may be the ones that support your researcher so she has
time and resources for yours. No one in academic (university based)
research works solely on a single project. Most will have administrative,
supervisory or teaching duties that occupy a significant part of their
Even with the best minds and material and plenty of money, not every
effort will be successful. If things don't work out as you hoped, be
philosophical about it. Negative results mean there is one more thing you
know it is not. Somewhere down the road someone may have a new idea or
turn up some other information that will help complete your abandoned
As in the world of purebred dogs, every once in a while research goes awry
for reasons having noting to do with the matter at hand. A project may
languish because of people or politics. Employees come and go, student
researchers may quit, leave or otherwise abandon their work, and politics
within a company, university, or professional organization may delay or
terminate a project. Sometimes people die. In such instances, it may not
be possible to pick up the pieces.
Once research is successfully concluded, the funding source and who did
the work will have a bearing on what happens next. If it was done by a
commercial lab or funded by a corporation the results may be kept private
or subject to patents. Dog breeders complain at the high cost of some
tests, especially when they or their club provided some of the funds.
Commercial interests expect to recoup their expenses and make a profit. If
dog people provide significant funding, the club or other canine
organization spearheading the effort should discuss the ultimate financial
impacts with the researchers ahead of time.
Many universities now patent findings as well, primarily to protect the
intellectual property of their researchers but also in hopes of generating
income that will help underwrite future research. But university research
is almost always published and becomes available to those who want to
build upon it. Articles detailing findings are submitted to peer reviewed
journals. Peer review is a process by which other scientists not directly
involved with the project give critique. If the article doesn't pass
muster, it doesn't get published. Before publication, the researchers must
limit public discussion of their findings. Saying too much may prevent
publication or jeopardize the entire project.
Another danger of releasing preliminary results is that as the project
progresses, early interpretations may prove incorrect. The researcher does
not want to confuse or mislead you by saying too much too soon. While you
will not be able to get detailed reports prior to publication, major
contributors should be offered periodic progress summaries.
Luck be a lady
Even in science, pure chance can play a role. Shortly after Dr. Schmutz
located the canine brown (liver) gene, John Potter, a breeder of Dexter
cattle contacted her. He believed his cattle were brown and, in spite of
several prior rebuffs, persisted in seeking someone who would look at what
he had. Receiving Potter's information at that particular time enabled
Schmutz to do a follow-up study on the cattle version of the gene.
Get the ball rolling
Successfully instigating research on your own is a daunting task. It
requires many hours, incredible effort, and meticulous record keeping. You
also need well-developed people skills and a degree of obsession that
might justifiably be called crazy. A better approach is to gather a group
of like-minded individuals to share the load.
Ideally, such a group would work under the auspices and with the support
of a breed club or breed health organization. Sometimes that is not
possible. If so, an ad hoc group will do so long as everyone involved is
clear on the common purpose and goals and is willing to share in the work.
A project must stir interest within the breed community to generate data.
Health surveys can be an excellent tool to determine what breeders and
owners feel is important, as well as provide some indication of what data
might be available. Statistics from health registry and veterinary school
databases can also point you toward potentially fruitful topics.
Education is everything
Once a subject is identified, the first task is to convince others that
research is needed. Do some homework to get the facts. Learn what research
has already been done on other species in addition to other breeds of dog.
Have some idea of how frequent the trait is in your breed. Put your
findings to work in an education campaign designed to inform the average
owner or breeder. Use the Internet and e-mail discussion lists. Put
articles in club newsletters and breed magazines. Talk to regional clubs
and other interested groups. Set up an information booth or hand out
pamphlets at major breed events. Reach out to dog owners as well as
breeders. Those not involved with the breed mainstream may have dogs
valuable to research.
If information is too technical, you lose people. Keep initial efforts at
a level most people will comprehend. Append a list of references and
resources for those who want to learn more. Be positive. The danger to the
breed should not be soft peddled, but launching a campaign with an
accusatory tone will turn people off.
Present the problem. If necessary, indicate that some people (not all) are
acting in a manner detrimental to the breed. If you do this, also provide
suggestions for positive action. Do not propose punitive measures against
malefactors; witch-hunts are counter-productive.
Keep the issue current. The more people hear - and the more sources they
hear it from - the more likely they are to acknowledge its importance. If
you find articles by people from other breeds or, better yet, people well
known for their involvement with canine genetic issues, ask for reprint
permission in breed publications or on a website. Most writers are happy
If you have an interested researcher who can effectively communicate with
lay people, arrange a speaking engagement. Make sure you handle your end
professionally. Determine whether you need to provide transportation and
housing, have an appropriate venue, and make sure you can get any
necessary equipment or supplies. Be organized and ready to start on time.
Poor hospitality and sloppy event management may burn an important bridge.
Don't oversell: If you promise a huge audience and only five people show
up, you risk discouraging and embarrassing your speaker.
The right man (or woman) for the job
Once people are aware and concerned, it's time to start looking for a
researcher if you don't already have one lined up. Know who is currently
working in the field and whether they might be interested in dogs.
Initiate contacts. E-mail is the most convenient and effective route.
Universities often have faculty directories and commercial labs will have
contact information on their websites. If you can't find an e-mail address
try a letter or phone message, but be aware these sometimes don't reach
the intended recipient or might get set aside in the press of other
business. Follow up after a while if you don't receive a response, but
don't be rude or become a pest.
However you make contact be brief, businesslike, and to the point. A
breeder who had a unique and valuable set of data sent a long, detailed
letter to a researcher and never got an answer. She was understandably
unhappy at being ignored after all her effort. Coincidentally, I happened
to attend a meeting at which that researcher was present. In a discussion
about dealing with dog people, the researcher mentioned receiving a letter
so long and detailed she didn't have time to plow through it. The
researcher's frustration is also understandable.
Be patient and persistent; finding the right researcher can take time. I
spent several years trying to locate someone interested in reviewing the
Collie Eye Anomaly data on Australian Sheperds. A number of researchers
acknowledged I was on to something, but they were involved in other
projects or it wasn't in their area of interest or expertise. I kept at
it, eventually obtaining introduction to Lionel Rubin of the University of
Pennsylvania, who ultimately wrote journal article.
If you meet with researchers, set aside any preconceptions you may have
about what a scientist should look like. There is no conformation standard
requiring white lab coats, pocket protectors and horn-rim glasses. If you
are accustomed to conducting discussions and negotiations in formal
business settings, don't assume the researcher must wear a three-piece
suit to be worthy of consideration. If you meet at or near the place the
researcher works and she shows up looking like she spent the night in a
barn, she may have had to do just that. What is important is not what
researchers look like, but their training, prior research and willingness
to consider your project.
Good people skills on the part of the researcher are helpful, but not
vital. A friendly, accessible researcher will engage people. Our dogs are
our friends and family members. We want to feel the researcher cares.
However, the best researcher for the job may not be good at schmoozing or
have the time to engage in public relations efforts. At a meeting between
researchers and breeders at the University of California-Davis in January
2003, researchers bemoaned the level of involvement and response often
demanded by dog people. A board member of one of the major grant funding
agencies remarked, "We are a needy bunch."
And so we are, but we need to be aware that not every researcher will be
comfortable with intense relationships with dog owners or being bombarded
with calls, letters and e-mails. Stick to business unless invited to do
otherwise. You should not expect a researcher to engage in social
chit-chat or extended back-and-forth about minor details. That is not to
say that you might not develop a friendship, but this is not your purpose.
Try to determine researchers' comfort level with owner contact. If it is
low, arrange for some kind of intermediary who can answer simple questions
for dog owners and offer a sympathetic ear, succinctly restate information
and pertinent questions for the researcher, and then relay the response
back to the owner in language she will understand.
Some labs and universities have research coordinators who field all
contacts from breeders and dog owners. The University of Missouri and the
commercial lab VetGen have both done this for their separate canine
epilepsy research efforts. They currently have excellent individuals
filling those positions. The right person makes people feel comfortable
and confident in their dealings with the project. This facilitates
communication and provides positive word-of-mouth promotion. Financial
constraints may render some university research programs unable to support
this kind of position. In that case, the club, breed foundation or other
group should offer to help.
Once researchers are involved, get organized so you can facilitate their
efforts. Someone should be designated as the group's liaison with the
scientists. Preferably this should be a person with the knowledge and
expertise to handle technical issues and render them into lay terminology.
The dog world has it's own jargon and every breed has additional unique
language; the liaison may also find himself translating "dog
speak" for the researcher.
Someone should be the primary public spokesperson to club members and
other dog people. This might be the researcher liaison but can also be
someone else. Whoever has the job should be experienced with public
relations or education, both as a writer and speaker. This individual must
be able to present information in a manner understandable to the average
person. Avoid assigning anyone highly controversial. People may refuse to
cooperate with the research because they are in disagreement with the
spokesperson over some other issue.
For both liaison and spokesperson, people skills are key. Polite and
friendly but professional individuals will get better response from dog
people and researchers alike.
Avoid discouraging volunteers. If someone wants to help, try to find
something for him to do. If he offers a good idea, be sure to include him
in its execution. If the idea isn't workable, politely decline and try to
involve him in another way.
Pulling it all together
Gathering sufficient samples is the key to success. The journal article on
CEA in Aussies got written because I had previously accumulated the
pedigrees and CERF forms that made up the data. Where DNA samples are
necessary, the cooperation of numerous owners and breeders is required.
Samples will in most cases be gathered after the commencement of the
project, though a gene or DNA bank is an excellent tool for storing
samples against future need. Lacking sufficient data or banked samples, it
takes publicity, loads of encouragement, and maybe a few sample-gathering
clinics to get enough to do a study.
Make sure both you and the researcher are clear about how samples are to
be handled and what is to be done with them. Someone needs to maintain a
log of all samples received, including their current location and status.
The researcher should see that this is done, but if a club or other group
is responsible at any level it should keep its own log. Know what will
happen to the samples once the project is complete. In some cases, they
will be discarded. In others, they might be kept and stored for use on
future projects. Determine this up front and make sure donors are so
Confidentiality is key. Hereditary disease is an emotional issue. People
must feel that the data they provide will not be abused or used in a
manner they didn't intend. People who are actively breeding or competing
should not have access to detailed information on who has participated, if
at all possible. This includes researchers who happen to be active in the
breed under investigation. One such breeder-researcher set up procedures
that assigned someone else to review incoming samples and maintain the
full data files. That individual assigned an ID number to each sample.
When the researcher got them, she had no idea what specific dogs they came
People take pride in the fact that they and their dogs contributed. They
want to know how it all comes out. Study results should be made available
on websites or in breed publications at the conclusion of the project.
People who contribute may want to know specifically what was learned from
their own dog's sample. Donors need to be informed that this information
is rarely available.
Data alone is not enough. Locating a gene can cost $50-100 thousand
dollars or more. Dog groups should be willing to provide at least some of
the funds but few clubs have the ability to raise that much money. Even
fewer have the expertise to review grant applications and oversee
recipients. Clubs, breed health organizations and groups of concerned
individuals can team up with organizations like Morris Animal Foundation
and AKC's Canine Health Foundation to provide more financial support than
your group could gather on its own. The foundations have trained staff who
provide the necessary review and oversight. Joint fundraising efforts,
like CHF's "Donor Advised Funds" also provide a method of making
donations tax deductible.
Financial benefits can flow two ways. If your club or health organization
will provide most or all the data for research likely to result in a
screening test or marketable product, you might want to bargain for some
level of return for your effort, like a certain number of no-cost
screenings for those individuals who provided data or a testing fee
discount for club members over a defined period of time. Such negotiations
are best done up front.
The end of the road
Not every research project will be fruitful. Not every relationship
between researchers and dog people works out. If it doesn't, accept the
situation without blame or recriminations and resolve to do better next
time. Choose your subsequent effort carefully. Too many spectacular
failures chill response.
The road to a successful collaboration between dog people and researchers
may sometimes be long or difficult. Understanding how research works and
what is required of you can smooth over the rough spots. Make the effort
to build that bridge from our world to theirs. The journey will ultimately
benefit both science and our dogs.
PON Digest would like to thank Dr. Linda Aronson for
making this article available.