COPPER STORAGE DISEASE STUDY

Grant No. 02297-MOU:
Understanding the Genetics of Hepatic Copper Toxicosis in the Dalmatian
Researcher: Principal Investigator: Dr. Andrew Lawrence Mason, PhD; University of Alberta
Program Area: Liver Disease
Grant Period: 12/1/2016 – 11/30/2018
Total Grant Amount: $100,000.00
DCAF Funding:

Abstract: Copper toxicosis, leading to early death from liver disease, was first described in Bedlington Terriers in 1975, with similar diseases described in other dog breeds including the Labrador Retriever, West Highland White Terrier, Skye Terrier, and Doberman Pinscher. Genes have been linked to copper toxicosis in the Bedlington Terrier and the Labrador Retriever, but the genes differ by breed. In most breeds the genes are not known. Copper toxicosis was considered rare in the Dalmatian but may be more common than previously believed. Symptomatic dogs may be misdiagnosed as having other liver diseases, never appropriately diagnosed or only diagnosed with copper overload at a terminal stage. The investigators aim to identify the faulty gene(s) in Dalmatians using an advanced whole genome sequencing strategy to obtain the genome sequences of carefully selected members of an affected Dalmatian pedigree. Identification of the problem gene is the first step towards genetic testing and to improved breeding practices necessary to eradicate hepatic copper toxicosis from the Dalmatian breed.

Gene identification will help raise awareness of copper toxicosis in the Dalmatian breed, lead to more rapid diagnosis of the condition, and support the search for the most effective therapy.

Funding for the research is provided through the efforts and generosity of the Dalmatian Club of America/DCA Foundation. The AKC Canine Health Foundation supports the funding of this effort and will oversee administration of funds and scientific progress reports.