DCAF recently sponsored a study administrated by CHF which helped us learn more about inherited genetic Copper Storage Disease in the Dalmatian breed. This disease, if not caught early, is fatal. Treatment for dogs who have it is effective but not inexpensive. The genetics of CSD differ among breeds, and the study confirmed that CSD’s genetic presentation in Dalmatians is unique as well.
The extensive global genome analyses did not reveal a single significant gene variant that explains CAH in the Dalmatian breed. While we have made some progress in identifying CAH-associated genetic variation in the Dalmatian, for several family groups, no credible CAH-associated variant has been identified to date. This might suggest the influence of several genetic variants that would require much larger sample sizes for the analysis.
The study indicates that in the Dalmatian breed, CAH is more complex than the single-gene disorder observed in copper toxicosis in the Bedlington Terrier and might be more akin to the complex CAH seen in the Labrador Retriever, observed by other researchers, with several gene variants potentially at play. ATP7B gene variants may affect the function of the ATP7B copper pump and lead to hepatic copper accumulation in some Dalmatians. In the absence of clear gene-to-CAH findings, and the heightened awareness of CAH beyond specific breeds, the influence of environmental copper must also be considered, and it would be prudent for concerned owners to discuss lower copper diets with their veterinarian.
Original funding began in 2017 with additional funding in 2022. A Phase II study began in 2023. DCAF funded 100% of these studies at an estimated investment of $190,336.
We are currently awaiting peer-reviewed publication of this studies findings. At that point, a determination will be made about whether to pursue an RFP (Request for Proposal) from other research teams to carry on the research.
The description of the Phase II research can be read here:
You can also read about the conclusions of Phase I of the CSD research.
Additional Current Studies & Scholarship Funded with AKC CHF
D24CA-527-Using-Genomics-to-Reduce-Incidence-of-Deadly-Cancer-in-Dogs.pdf – DCAF Grant $10,000
D23CA-303-Evaluation-of-a-novel-biologic-therapeutic-for-canine-bacterial-otitis-externa – DCAF Grant $10,000
MAF D21CA-820 Evaluating a Probiotic to Treat Pyoderma -DCAF Grant $5,000
MAF D21CA-042 – Developing Gene-Editing Tools for Heart Disease – DCAF Grant $12.000
