Displaying results 1 - 10 of 36 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. Understanding the Genetic Basis of Addison's Disease in Portuguese Water Dogs

(Web Page; Mon Apr 12 13:46:00 CDT 2021)

Description:

The purpose of this study is to understand the genetic risk factors that lead to the development of Addison's Disease in Portuguese Water Dogs.

Participation Requirements:

Affected: must be a typical Addisonian case with abnormal Na/K ratio and flat ACTH stimulation test at the time of diagnosis. Must be receiving cortisol replacement therapy (prednisone) and aldosterone replacement therapy (Percorten, Zycortal, or Florinef).

Unaffected: must be at least 10 years of age and apparently healthy. Owner must be willing to allow us to run a baseline cortisol test and/or an ACTH stimulation test to rule out Addison's disease.

Dog can reside anywhere, no specific restrictions; blood will be drawn at local veterinarians and be shipped to us via FedEx.

Owner's Responsibilities:

1. Participate in a brief survey about the dog's medical history
2. Be willing to bring the dog to a local veterinarian for a blood draw
3. Submit a pedigree, if available
4. Submit the dog's medical records for review (affected dogs only)

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

(Web Page; Fri Aug 16 11:20:00 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...

Description:

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 Sep 08 10:16:00 CDT 2021)

None at this time.

Description:

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. Searching for the Genetic Basis of Addison’s Disease in the Bearded Collie

(Web Page; Mon Feb 01 09:08:00 CST 2021)

Addison’s Disease (AD, or hypoadrenocorticism) is an autoimmune disease caused by destruction of the outer layer of the adrenal glands. This section of the adrenal glands is responsible for making steroid hormones which help the bo...

Description: CHF-funded investigators describe several genetic mutations that contribute to the risk of Addison's Disease in the Bearded Collie.

6. Understanding the Genetic Basis of Addison’s Disease in Portuguese Water Dogs

(Web Page; Mon Apr 12 10:11:00 CDT 2021)

None at this time.

Description:

Addison’s disease (AD) is a common, life-threatening disorder in dogs characterized by the immune-mediated destruction of portions of the adrenal gland. This damage prevents the adrenal gland from synthesizing hormones that are necessary for normal cell metabolism, kidney function, and maintenance of the immune system. Dogs with AD are also highly predisposed to succumbing to a life-threatening adrenal crisis. AD is most common in Portuguese Water Dogs (PWDs), which have a 29-fold greater risk of developing the disease compared to other dog breeds, indicating a strong genetic component. To date, no genetic variants have been associated with AD in PWDs. This lack of knowledge has prevented the development of a genetic test that would allow for prediction of a dog’s disease risk and the development of informed breeding practices related to AD. In this study, investigators will use state-of-the-art scientific tools to understand the genetic basis of AD in PWDs. The data generated here will provide the foundation for the development of a genetic test for AD in PWDs, enabling early diagnosis and treatment, as well as maintenance of genetic diversity within the breed while helping to decrease disease incidence.


Funding for the research is provided through the collaborative efforts and generosity of the Portuguese Water Dog Foundation, Inc. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress.

Learn how you can participate in this research!

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

(Web Page; Wed Mar 11 07:28:00 CDT 2020)

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...

Description:

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.

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

(Web Page; Thu Aug 26 08:43:00 CDT 2021)

Gershony, L. C., Belanger, J. M., Hytönen, M. K., Lohi, H., & Oberbauer, A. M. (2021). Whole Genome Sequencing Reveals Multiple Linked Genetic Variants on Canine Chromosome 12 Associated with Risk for Symmetrical Lupoid Onychody...

Description:

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.

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

(Web Page; Fri Aug 16 11:20:00 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...

Description:

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.

10. 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; Wed Aug 21 09:05:00 CDT 2019)

None at this time.

Description:

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.

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