Closing the Gap – The Time Path

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Talent wins but it takes team work and intelligence to produce championships

Improving the conformation, health and temperament of purebred dogs should be the goal of every breeder. What makes this goal reachable began when the studbook for breeds closed. The result was the establishment of specific breeds. By definition closing the stud book means that the diversity of the genes for a breed would be restricted to those already present. Thus when a stud book closes no new genes are allowed into the breeds that were not already present in the gene pool. The exception is the occurrence of a few infrequent mutations. By closing a gene pool the pedigrees of each breed became dependable and reliable as a tool for improving breed type, health and temperament. Further refinements occurred as breeders began to use breed standards as their guide for breeding and selection. The result produced a large number (N=170) of desirable breeds with verifiable ancestries. Over time these closely monitored populations have become especially suitable for the study of diseases. Most of the major advances have occurred during the past two decades. With the advancement of DNA tests more improvements became possible at a faster pace. Other notable advancements included those in the area of digital radiographs, laboratory tests, nutrition and better breeding methods. Today, breeders can use these protocols to breed by direction rather than by chance.

When the canine genome sequencing project was first undertaken the American Kennel Club, Canine Health Foundation (AKC/CHF) became one of its largest non-profit supporters. Once it was completed the canine genome joined four other completed sequences, including one for the human and another for the chimpanzee. Many benefits were quickly realized. The breakthrough discovery on Neuronal Ceroid Lipofuscinosis (Tibetan Terriers) led to landmark stem cell replacement therapy in a California boy who was suffering with a disorder called Batten Disease. Other useful advancements quickly followed. For example, a test was developed for copper toxicosis (CT) in Bedlington Terriers where 25% are affected, 50% are carriers and only 25% are clear (Bell). Other was discoveries included a test for juvenile cataracts in Boston Terriers along with the mechanism involved in the transmission of the tick-borne disease, Rocky Mountain Spotted Fever (Brewer). Genetic markers for illnesses in Basenjis, Standard Poodles and English Cocker Spaniels followed. These technological advancements demonstrate what can be accomplished when breeders, clubs and research efforts are combined.

The key to this kind of success involves cooperation and sufficient funding. Perhaps the best example was the collaborative effort between the AKC/CHF and the Orthopedic Foundation for Animals (OFA) which resulted in the development of the Canine Health Information Center (CHIC) (caninehealthinfo.org). CHIC is an online registry that works with parent clubs to establish a panel of testable disorders for specific breeds. The CHIC concept is that dogs achieve a CHIC certification by completing the health-checks identified by their breed club. Passing each health test is not a requirement for certification. CHIC is about being health conscious, not about being faultless. For those not ready to share in an open database CHIC offers a way to protect the privacy of their information. CHIC enters all test information into their database. Breeders who chose to restrict their test results participate in the aggregate because summary data is useful for research and statistical reporting.

CHIC functions not only as a tool for breeders and their clubs but as a resource for health information that can be shared in various ways. In this respect, every breeder can participate even if they are only willing to share limited amounts of information. Restricted data has value because it can be used for general searches about diseases and traits. This is often useful for research and the calculation of statistical averages. For example, summary data is useful to breeders who wish to compare their results to their breed’s average.

Since its inception the AKC/CHF has funded more than 340 studies. Many of the top ten diseases found in purebred dogs are being studied at 74 veterinary schools and research institutions worldwide including those located in Argentina, Great Britain, France, Germany, Australia, and the Netherlands. Because of the many new methods and technological breakthroughs that have occurred there are more than 60 DNA tests now available for screening breeding stock.

The Time Path

One of the major obstacles in bringing new DNA tests forward is called the time-path. This is the amount of time and effort required to identify a problem, characterize it, call it by its proper name, and secure funding. If the researcher is successful and discovers a solution, a protocol is developed for use by veterinarians and breeders. Unfortunately, the time-path is often longer than most expect. For example, once a project has been identified and funded, blood samples and pedigrees must be collected. If the researcher is successful and a marker found, the next step is to make the information available in an easy to use and understandable manner. The time-path for the total process can be as short as a few years or as long as a decade. Each time a new test or new method is developed a new learning curve begins. Veterinarians and breeders must learn what laboratories can administer the test, how the results can be used and interpreted and what mechanism is available to identity and mange the carriers. With this kind of information and technology the genes that took years to collect can be saved while diseases and disorders can be controlled and eliminated.

With DNA technology and new breeding protocols the problems of the breeder can be addressed more directly. In the past the popular approach was to simply eliminate all of the carriers and affected dogs from a breeding program. Unfortunately, this approach quickly affected the diversity of a breed’s gene pool. Others took a different approach and conducted test-matings to identify carriers, affected and normals. This did not prove to be a desirable method because the undesirable genes are either present or not and test breedings often produced affected dogs that had to be carefully placed or euthanized. More recently better methods have become available that can reduce many of the problems of the past. For example, DNA testing can be used to eliminate problems because it allows breeders to manage carriers while saving the genes needed to maintain breed type and temperament. The screening of breeding stock followed by the selection of quality offspring offers a significant improvement over test-matings.

It has been well established that DNA tests will help breeders decrease the frequency of defective genes. If no test is available carriers can be carefully bred. The approach recommended is to breed carriers to those that appear normal when evaluated. The assumption is that the breeder will follow-up on the offspring produced. Using this approach breeders can select normal offspring for future breedings. This is a slower and less certain approach and it will not eliminate all of the carriers but it will reduce their frequency.

Because of the increased awareness of diagnostic tests better decisions can be made with positive results. The following tests and laboratories that administer tests for genetic disorders and some conformation traits are listed.

Canine Genetic Tests - 2008
Disorder Breed Test - Type Test Organization
Canine Leukocyte Adhesion Deficiency (CLAD) Irish Red & White Setter
Irish Setter
Direct Optigen
Cataract, juvenile (Early onset Hereditary Cataract – EHD) Boston Terrier
French Bulldog
Staffordshire Bull Terrier
Direct Optigen
Ceroid lipofuscinosis Border Collie
American Bulldog
Dachshund
England Setter
Direct Optigen
U Missouri
Coat Color and  Nose Color  variations

Australian Shepherd
Border Collie
Brittany
Belgian Shepherd
Belgian Tervuren
Cardigan Welsh Corgi
Collie (Rough, Smooth)
Cocker Spaniel
Curly-Coated Retriever
Belgian Malinois
Dachshund
Dalmatian
Doberman Pinscher
English Cocker Spaniel
English Setter
English Springer Spaniel
Field Spaniel
Flat-coated Retriever
French Bulldog
German Shepherd Dog
German long haired Pointer
German Wirehaired Pointer
Great Dane
Greyhound
Groenendael
Labrador Retriever
Laekenois
Large Munsteriander
Lowchen
Newfoundland
Pointer
Pomeranian
Poodle
Portuguese Water Dog
Pudelpointer
Shetland Sheepdog
Staffordshire Bull Terrier
Whippet
Wirehaired Pointing Griffon

Direct Health Gene
Coat Color Gene Variations Alaskan Klee Kai
American Cocker Spaniel
Australian Cattle Dog
Border Collie
Curly Coated Retriever
Dalmatian
Doberman Pinscher
English Cocker Spaniel
English Springer Spaniel
Flat Coated Retriever
Gordon  Setter
Labrador Retriever
Newfoundland
Pointer
Poodle
Schipperke
Scottish Terrier
Stumpy Tail Cattle Dog
Direct Health Gene
Coat Length (FGF 5) Weimeraner Direct Animal Health Trust
Cobalamin Malabsorption (Methylmalonic Aciduria) Australian Shepherd
Giant Schnauzer
Direct Penn Gen
Collie Eye Anomaly (Choroidal Hypoplasia) Australian Shepherd
Border Collie
Lancashire Heeler
Nova Scotia Duck Tolling
Retriever
Rough Coated Collie
Shetland Sheepdog
Smooth Coated Collie
Whippet Longhair
Direct Optigen
Cobalamin Malabsorption (Methylmalonic Aciduria) Beagle
Border Collie
DSGH
Shar Pei
Phenotypic Penn Gen
Cone (Retinal) Degeneration German Shorthaired pointer Direct Optigen
Congenital Hopothyroidism With Goiter (CHG) Rat Terrier
Toy Fox Terrier
Direct Michigan State U. Fyfe Lab
Penn Gen
Congenital Stationary Night Blindness (RPE65-CSNB) Briard Direct Optigen
Animal Health Trust
Cystinuria Newfoundland
Labrador Retriever
Direct Optigen (Newf only)
PennGen
VetGen (Newf only)
Degenerative myelopathy (DM) German Shepherd Dog (Flash Test)
Boxer (RAPD)
Pembroke Welsh
Corgi (RAPD)
Rhodesian Ridgeback (RAPD)
Direct Susceptibility (loci) U-Florida – Neuro Service
Factor VII Deficiency Alaskan Klee Kai
Beale
Scottish Deerhound
Kerry Blue Terrier
Direct Penn Gen
Fanconi Syndrome Basenji Linked Marker U-Missouri
Fanconi Syndrome Basenji
Norwegian Elkhound
Phenotypic Penn Gen
Fucosidosis English Springer Spaniel Direct Penn Gen
Animal Health Trust
Glanzmann’s Great Pyrenees Direct Auburn U – Boudreaux Lab
Thrombasthenia (Type I) Otterhound Direct Auburn U – Boudreaux Lab
Globoid cell leukodystrophy Cairn Terrier
West highland White Terrier
Direct Jefferson Medical College
Glycogenosis (GSD) Type IIIa Curly Coated Retriever Direct Mich. State U  Fyfe Lab
Glycogenosis (GSD) Type IV Norwegian Forest Cat Direct Penn Gen
GM1-Gangliosidosis Portuguese Water Dog Direct NY U, Neurogenetics Lab
Hypertrophic Cardiomyopathy Maine Coon Cat
Ragdoll
Direct Washington State U., Meurs Lab
Ivermectin Sensitivity (MDR - 1) Australian Shepherd
Collie
Old English Sheepdog
Shetland Sheepdog
Direct Washington State U., Meurs Lab
L-2-HGA (L-2-hydroxyglutaric aciduria) Staffordshire  Bull Terrier Direct Animal Health Trust
Mannosidosis DSH
Persian
Direct Penn Gen
Merle Gene (SILV) Australian Shepherds
Beauceron Shepherd
Border Collie
CArdian Welsh Corgi
Catahoula Leopard Dog
Chihuahua
Cocker Spaniel Collie
Dachshund
Great Danes
Norwegian Hound
Pitt Bull
Pomeranian
Pyrenean Shepherd
Shetland Sheepdogs
Direct Gen Mark
Mucolipidosis II (I-Cell Disease) DSH Direct Penn Gen
Mucopolysaccaharidosis (MPS) DSH
German Shepherd Dog
Miniature Pinscher
Miniature Schnauzer
Schipperke
Siamese
Direct Penn Gen
Muscular Myopathy (Centronuculear Myopathy) Labrador Retriever Direct Alfort School of Vet Medicine (fr)
Myotonia Congenita Miniature Schnauzer Direct Optigen
Penn Gen
Narcolepsy Dachshund
Doberman Pinscher
Labrador Retriever
Direct Optigen
Neonatal Encephalopathy Standard Poodle Direct U Missouri
Neophropathy (Hereditary N., Familial N.) English Cocker Spaniel Direct Optigen
Phosphofructokinase Deficience (PFK) American Cocker Spaniel
English Springer Spaniel
Direct Optigen
Penn Gen
Polycystic Kidney Disease (PKD) American Shorthair
Himalayan
Persian
Scottish Fold
Direct UC-Davis – Lyons Lab.
Animal Health Trust
Progressive Retinal Atrophy (cord1) Dachshund Miniature
Longhaired English Springer Spaniel
Direct Animal Health Trust
U Missouri
Progressive Retinal Atrophy Dominant Bullmastiff English Mastiff Direct Optigen
Progressive Retinal Atrophy (prcd) American Cocker Spaniel
American Eskimo Dog
Australian Cattle Dog
Chesapeake Bay Retriever
Chinese Crested
Cockapoo
English Cocker Spaniel
Entelbucher Mt. Dog
Finnish Lapphund
Golden Retriever
Kuvasz
Labradoodle
Labrador retriever
Lapponian Herder
Nova Scotia Duck Trolling Retriever
Poodle (miniature, toy)
Portuguese Water Dog
Spanish Water Dog
Stumpy Tail Cattle Dog
Swedish Lapphund
Direct Optigen
Progressive Retinal Atrophy (rcd1) Irish Red & White Setter Irish Setter Direct Optigen Animal Health Trust
Progressive Retinal Atrophy (rcd3) Cardigan Welsh Corgi Direct Mich. State U. - Peterson-Jones Lab
Optigen
VetGen
Progressive Retinal Atrophy (rcd1a) Sloughi Direct VetGen (Irish Setter)
Progressive Retinal Atrophy – Type A Miniature Schnauzer Direct Optigen
Progressive Retinal Atrophy – X-Linked Samoyed
Siberian Husky
Direct Optigen
Pyruvate Dehydrogenase Phosphatase Deficiency (PDH or PDP 1) Clumber Spaniel
Sussex Spaniel
Direct U Missouri
Animal Health Trust
Pyruvate Kinase Deficiency (PK) Abyssinian
American Eskimo Dog
Basenji
Beagle
Cairn Terrier
Chihuahua
Dachshund
DSH
Somali
West highland White Terrier
Direct Optigen (Basenji)
PennGen (All)
VetGen (Basenji)
Animal Health Trust (Westies)
Renal Dysplasia Lhasa Apso
Shih Tzu
Soft Coated Wheaten Terrier
Linkage VetGen
Retinal Dysplasia – Canine Multi-focal retinopathy (CMR) Bullmastiff
Coton de Tulear
Dogue de Bordeaux
Great Pyrenees
Mastiff ( English & French)
Direct Optigen
Severe Dysplasia – Canine Multi-focal Retinopahty (CMR) Bullmastiff
Coton de Tulear
Dogue de Bordeaux
Great Pyrenees
Mastiff (English & French)
Direct PennGen
Severe Muscular Atrophy Bassett Hound
Landseer
Sptiz
Direct Auburn U – Boudreaux Lab
Trapped Neutrophil Syndrome (TNS) Border Collie Linkage U. New South Wales
Von Willibrand’s Diesase Bernese Mt Dog
Doberman Pinscher
Drentsche Patrijshound
German Pinscher
Kerry Blue Terrier
Manchester Terrier
Papillion
Pembroke Welsh Corgi
Poodle
Scottish Terrier
Shetland Sheepdog
Direct VetGen
Von Willibrand’s Diesase Irish Red & White Setter Direct Animal Health Trust

CONTACT LABORATORY SOURCES:

Alfort School of Veterinary Medicine: France, Animal Helath Trust: (England): http://www.aht.org.uk/sci_disc_genetics_dna.html#canine

Auburn University – Boudreaux Lab: http://www.vetmed.auburn.edu/index.pl/Boudreaux_mk (334) 844 2692

Cornell – Goldstein Lab.: http://www.vet.cornell.edu/labgoldstein/ (607) 253 4480

Cornell Univ. Comparative Coagulation Lab. http://www.diaglab.vet.cornell.edu/coag/test/hemopwh.asp ( 607) 275 0622

GenMark: http://www.genmarkag.com/home_companion.php (877) 766 3446

Health Gene: http://www.hearthgene.com (877) 371 1551

Jefferson Medical College: David.wenger@mail.tju.edu

Michigan State University – Peterson-Jones Lab: http://www.cardigancorgis.com/PraPressRelease.aspx (517) 353 3278

New York University Neurogenetics lab: http://pwdca.org/GM1app.html (212) 263 2943

Optigen: http://www.optigen.com (607) 257 0301

PennGen: http://www.vet.upenn.edu/penngen (215) 898 8894

UC Davis – Lyons Lab: http://www.vgl.ucdavis.edu/service/catPKD.html (530) 752 2211

U Missouri – Johnson Lab: http://www.caninegeneticsdiseases.net/ (573) 884 3712

U New South Wales- Wilton Lab: a.wilton@unsw.edu.au

U Florida – Neuro Service: http://www.neuro.vetmeded.ufl.edu/dm_flash_test_web/index.html (352) 392 4700 x 4700

VetGen: http://www.vetgen.com (800) 483 8436

Washington State U – Meurs Lab: http://www.vetmed.wsu.edu.edu/deptsVCGL/ (509) 335 6038

Washington State U – Pham Lab: http://www.vetmed.wsu.edu.edu/annonements/invermectin/ownerinfo.asp (509) 335 3745

References:

Bell, Jerold, “The Healthy Dog”, American Kennel Club Gazette, New York, New York, February, 2001.

Bell, Jerold, “The Effects of Genetic Testing”, American Kennel Club Gazette, New York, New York, June, 2001.

Brewer, George, “Canine Molecular Genetic Diseases”, Tufts’ Canine and Feline Breeding and Genetics Conference, Sturbridge, MA., September 30 – October 1, 2005.

About the Author

Carmen L Battaglia holds a Ph.D. and Masters Degree from Florida State University. As an AKC judge, researcher and writer, he has been a leader in promotion of breeding better dogs and has written many articles and several books.Dr. Battaglia is also a popular TV and radio talk show speaker. His seminars on breeding dogs, selecting sires and choosing puppies have been well received by the breed clubs all over the country.