Displaying results 1 - 10 of 31 items found.

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1. Juvenile Addison's Disease

(Web Page; Mon Sep 10 14:55:00 CDT 2012)

Description: Genetic test for Juvenile Addison's Disease in the Nova Scotia Duck Tolling Retriever

2. Samples Needed for Addison’s Disease Study

(Web Page; Mon Jan 26 09:10:00 CST 2015)


Addison's disease is an endocrine disorder where the body attacks its own adrenal glands. The adrenal glands make important hormones that help us cope with stress and control electrolyte balance, among other things. In Addison's disease, the adrenal glands stop producing these hormones and leave us susceptible to a range of problems ranging from severe dehydration to gastrointestinal signs to abnormal heart rhythms. Because the signs associated with Addison's disease can be vague, the condition is often misdiagnosed and can cause significant problems in both people and dogs. Addison's disease is inherited in Standard Poodles, but the genetics of the disease are unknown.

Principal Investigators Dr. Steven Friedenberg, Dr. Kathryn Meurs, and Dr. Katharine Lunn hope that by taking advantage of major advances in DNA sequencing, they can uncover the gene mutations that cause this disease in Standard Poodles, and potentially other breeds as well. By finding the mutations, they can work to decrease the incidence of the disease in this breed. They also hope to apply what they discover to other dog breeds and to humans, where the genetics of the disease remain a mystery as well.

3. Establishing a Genetic Linkage Between Addison's Disease and DNA Markers

(Web Page; Thu May 23 11:30:00 CDT 2019)

Famula, T. R., Belanger, J. M., & Oberbauer, A. M. (2003). Heritability and complex segregation analysis of hypoadrenocorticism in the Standard Poodle. Journal of Small Animal Practice, 44(1), 8–12. https://doi.org/10.1111/j.17...


Addison's disease is a late onset disorder caused by deterioration of the adrenal gland cortex. Although Addison's disease occurs in the general canine population, some breeds show a greater prevalence as noted by owners and breeders: Bearded Collies, Standard Poodles, Leonbergers, Portuguese Water Dogs, and West Highland White Terriers. We have demonstrated that for Standard Poodles and Bearded Collies, Addison's disease is highly heritable. Statistical evaluation of the dogs' pedigrees suggests a single locus of large effect significantly influences the expression of Addison's in the Standard Poodle and that this locus acts as an autosomal recessive. Similar findings characterize Addison's for the Bearded Collie although the level of significance is less robust. The specific objectives of this grant are to expand our pedigree, phenotypic, and DNA databases for all possible Bearded Collies, Standard Poodles, Leonbergers, Portguese Water Dogs and West Highland White Terriers as related to Addison's disease and to continue our genome scan of the DNA to identify a genetic marker linked to the single locus suggested by the pedigree analyses.

4. Identifying the Disease-Defining Autoantibodies in Canine Addison's Disease

(Web Page; Wed Apr 10 11:50:00 CDT 2019)

None at this time.


Addison's disease is a common and life-threatening disorder in dogs in which the body's immune system destroys the outer layer of the adrenal glands. The adrenal glands produce hormones that are critical for energy metabolism, immune system function, intestinal health, and kidney function. Symptoms of Addison's disease can mimic other conditions, and as a result, many dogs remain undiagnosed for years. About one-third of dogs with Addison's disease are diagnosed only after suffering an acute adrenal crisis, which can cause a wide range of complications that require emergency stabilization and hospitalization. Today, there is no way to predict which dogs will develop Addison's disease before they become sick. If such a test were available, veterinarians would be able to evaluate high-risk dogs before they show signs, helping to prevent disease-related complications and potentially enabling earlier treatment. In this study, the investigator will use a novel approach combining gene and protein sequencing to identify the antibodies that target the adrenal glands in Standard Poodles, Portuguese Water Dogs, and English Cocker Spaniels with Addison's disease. These antibodies are produced by the immune system before the onset of clinical signs. The ability to identify these antibodies would therefore provide a test for early diagnosis. This research will contribute to progress in developing an important clinical test for Addison's disease that can help improve the lives of the many dogs at high risk of developing this life-threatening condition.

5. Characterizing the Inheritance of Addison's Disease and Linked DNA Markers

(Web Page; Fri Apr 13 08:12:00 CDT 2018)

- Oberbauer, A.M., Bell, J.S., Belanger, J.M., Famula, T.R., 2006, Genetic evaluation of Addison's disease in the Portuguese Water Dog. BMC Veterinary Research 2, 15. - Famula, T.R., Belanger, J.M., Oberbauer, A.M., 2003, Heritability an...


Addison's disease is a late onset disorder caused by the deterioration of the adrenal gland. Addison's occurs in the domestic dog at approximately 0.1 percent, with some breeds showing a greater prevalence. Notably, the Bearded Collie, the West Highland White Terrier, the Standard Poodle, the Portuguese Water Dog, and the Leonberger are considered to have unacceptable rates of Addison's disease. Breeders have noted a familial tendency of Addison's disease suggesting a genetic basis to the disorder. Our laboratory has determined that Addison's is highly heritable in Bearded Collies. Further, although Addison's is not fully governed by a single locus in the Bearded Collie, it does appear to be regulated by a single gene of large effect. The specific objectives of this study are to develop a genetic marker associated with an Addison's locus in the Bearded Collie; such a genetic marker will provide a useful tool to aid breeders in making health-based breeding decisions. The second objective is to determine if Addison's disease in the Standard Poodle, West Highland White Terrier, Portuguese Water Dog and Leonberger also has a genetic basis and if so, whether there is a common genetic defect across all these breeds.

6. Identification and Inheritance of DNA Markers for Addison's Disease

(Web Page; Fri Apr 13 08:32:00 CDT 2018)


The study found that Addison's Disease (AD), the late-onset failure of adrenal gland function, is clearly inherited and appears to be regulated by a single gene that is inherited as an autosomal recessive. Researchers collected DNA samples and pedigrees from 390 Bearded Collies, 533 Standard Poodles and 167 Leonbergers. The samples were from both affected and non-affected dogs. Not enough affected Leonbergers were found, so research could not be completed for this breed. Researchers found that AD equally affects males and females; contrary to the bias in the literature, which stated that females were primarily affected. They also found that the coat color of the dog was not relevant. This study has provided the basis for an important next step: scientists will start screening DNA for a genetic marker. Once that marker is found, a DNA test to determine carriers for the disease can be developed.

7. Addison's Disease and Symmetrical Lupoid Onychodystrophy in Bearded Collies Provide Common Ground for Identifying Susceptibility Loci Underlying Canine Autoimmune Disorders

(Web Page; Fri Apr 26 13:15:00 CDT 2019)

Gershony, L. C., Belanger, J. M., Short, A. D., Le, M., Hytönen, M. K., Lohi, H., … Oberbauer, A. M. (2019). DLA class II risk haplotypes for autoimmune diseases in the bearded collie offer insight to autoimmunity signatures ...


Hypoadrenocorticism or Addison's disease (AD) is a life-threatening condition that afflicts multiple dog breeds and results from autoimmune destruction of the adrenal glands. Similarly, another canine autoimmune condition that causes pain and suffering is Symmetrical Lupoid Onychodystrophy (SLO). Both AD and SLO are postulated to be complexly inherited and preliminary data suggest a common set of susceptibility genes working in concert with additional genes that determine expression of either disease. For the study of AD and SLO the investigators will focus on the Bearded Collie breed due to its relatively high prevalence of both conditions and a genomic structure favorable for identifying variations in the DNA. The investigators will scan the entire canine genome using genetic markers coupled with whole genome sequencing to identify chromosomal regions that harbor genetic changes contributing to disease manifestation. The disease risk conferred by each of these genetic variants, or quantitative trait loci (QTL), will then be calculated to develop a tool for selecting sires and dams early in life, thereby allowing breeders to choose mating pairs that will produce offspring with a low likelihood of developing AD and SLO.

8. Preclinical Detection of Hypoadrenocorticism (Addison's Disease) in Dogs: Development and Evaluation of Laboratory Techniques for the Diagnosis of Immune-Mediated Canine Adrenal Disease

(Web Page; Fri Apr 13 09:54:00 CDT 2018)


The adrenals are hormone-producing glands located near each kidney. Their products are of such importance that, without them, an individual cannot survive. If the adrenals are damaged and not able to make sufficient hormones, a potentially life-threatening disease called hypoadrenocorticism arises. This disease is known as Addison's Disease. Both humans and dogs can have this disease. It is most often caused by an immune reaction in which the body's own defense mechanisms destroy the adrenals. This process releases telltale antibodies into the circulation before severe damage occurs. We hope to be able to measure these antibodies in serum. With this test, we will be able to make an early diagnosis long before affected animals become ill. Such a test will also help us identify which breeds, families and ages are most at risk for this disease. With this information we can identify which individual animals require close monitoring for the development of the disease and what breeding strategies might help eradicate it. An average prevalence of 0.3 percent has been reported for dogs, however numerous breeds including Bearded Collie, West Highland White Terrier, Standard Poodle, Portuguese Water Dog, Leonberger, Great Dane, Airedale Terrier, Basset Hound, Soft Coated Wheaten Terrier and Rottweiler are reported to be at higher risk.

9. Inheritance of Addison's Disease in Nova Scotia Duck Tolling Retrievers

(Web Page; Tue Jan 09 13:50:00 CST 2018)

Description: Canine hypoadrenocorticism (Addison's Disease) is due to a deficiency in production of corticosteroids and mineralocorticoids produced by the adrenal glands. These compounds are required for proper regulation of various pathways in the body including metabolism, blood pressure and response to stress. Affected dogs can present with a variety of non-specific clinical sighs including vomiting, diarrhea, lethargy, anorexia and weakness. Treatment for Addison's is life-long and relatively expensive. Additionally, in the event of an Addisonian crisis, animals can die if they are not diagnosed and treated properly. Classically , as reported in the literature, it is a relatively uncommon endocrine disease affecting primarily middle-aged, female dogs of any breed. However, certain breeds including Nova Scotia Duck Tolling Retrievers (Tollers), Bearded Collies, Standard Poodles, Portuguese Water Dogs and Leonbergers appear to be at increased risk for developing Addison's Disease. The purpose of this study is to perform a 10cM genome scan to identify genomic regions linked to Addison's disease in Tollers. Ultimately, the goal of this research program is to develop a genetic assay to assist breeders in eradicating this costly and life-threatening disease. The results of this study will be made available to the Toller breed clubs for use in counseling breeders.

10. Identifying Genes Regulating Addison's Disease in the Portuguese Water Dog (PWD)

(Web Page; Fri Apr 13 08:15:00 CDT 2018)


Addison's disease, or primary adrenocortical insufficiency, is characterized by destruction of the adrenal cortex, resulting in the inability to produce cortisone when stimulated with the hormone ACTH. In Portuguese Water Dogs (PWDs), this disease occurs with a frequency of 1-2 percent, and is a heritable autoimmune disease of low penetrance, caused by several interacting genes. Using both new and existing data, we propose to identify regions of the PWD genome that contain genes regulating the frequency of Addison's disease. Within those large regions we propose to identify the specific DNA sequence variants that are associated with Addison's. To date we have obtained DNA from about 90 Addisonian PWDs, as well as a number of unaffected PWDs, for which no family history of Addison's is reported. We have already identified two genomic regions, on canine chromosomes 12 and 37, that appear to be associated with the disease. To identify candidate genes, we will make selections using the newly available canine genome sequence, as well as the more detailed human genome sequence. Once affected gene disease frequency is identified, our long term hope is that prognostic tests can be developed that will aid breeders in selecting the most genetically compatible dogs for future

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