02227-MOU: Identification of Genetic Markers of Pulmonic Stenosis in Bulldogs
Grant Status: Closed
Pulmonic stenosis (PS) is a devastating inherited heart disease of dogs and children. PS is caused by an abnormal fusion or anatomy of the pulmonic valve that limits ejection of blood into the lungs and has severe consequences to the heart muscle and function. Untreated dogs are at risk of sudden death or congestive heart failure, and may die before 5 years of age. Treatment is palliative and aims to stretch or open the narrowed valve region. This treatment is expensive and not always effective at resolving this clinical condition. The Bulldog is extremely overrepresented for cases of PS and the disease is familial. Studying this disease in Bulldogs has the potential to identify a genetic mutation leading to a genetic test for this condition. Ultimately the identification of a mutation in Bulldogs would aid breeders in making responsible decisions to reduce the prevalence of this condition. The first step in this study will be clinical evaluation and genetic sample collection to be followed by a genome wide association study, which looks at genetic markers throughout the entire dog genome. The results from dogs that have the disease are then compared with healthy dogs. The investigators expect to identify a chromosomal region that is likely to contain a mutation for PS in this breed, the first step on the path to reduce the prevalence of this devastating disease in dogs. Funding for the research is provided through the efforts and generosity of the Bulldog Club of America Charitable Fund. The AKC Canine Health Foundation supports the funding of this effort and will oversee administration of funds and scientific progress reporting.
None at this time.
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