"In the history of veterinary medicine, discovery and application has been driven from the human side, not because of inherent research strengths, but because that is where the funding was placed. Now with the new tools of genomics and the unique attributes of breed genetics, translation and the flow of evidence-based medicine can be reversed, with medical breakthroughs being proven in veterinary medicine, driven by genomic medicine. The dog model holds promise for challenging and changing the healthcare paradigm - from generalized to personalized, and from treatment to prevention. This can be achieved in the dog more rapidly, at lower cost, and with greater resolution." Mark Neff Ph.D.
At projectdog, we believe in this paradigm and invite you, the dog owner and breeder, to be part of the discovery. Visit this page often to learn how you can help advance new research in canine genetics.
Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies.»
PLOS Genetics Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3–5 years) than typically expected for aging dogs (8–10 years). Studying this complex trait within pure breeds of dog may greatly increase our ability to identify genomic regions associated with risk of hearing impairment in dogs and in humans. We performed a genome-wide association study (GWAS) to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies. We identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09×10−13). To further localize disease-associated variants, targeted next-generation sequencing (NGS) of one affected and two unaffected dogs was performed. Through additional validation based on targeted genotyping of additional cases (n = 23 total) and controls (n = 101 total) and an independent replication cohort of 16 cases and 265 controls, we identified variants in USP31 that were strongly associated with adult-onset deafness in Border Collies, suggesting the involvement of the NF-κB pathway. We found additional support for involvement of RBBP6, which is critical for cochlear development. These findings highlight the utility of GWAS–guided fine-mapping of genetic loci using targeted NGS to study hereditary disorders of the domestic dog that may be analogous to human disorders.
Yokoyama JS, Lam ET, Ruhe AL, Erdman CA, Robertson KR, et al. (2012) Variation in Genes Related to Cochlear Biology Is Strongly Associated with Adult-Onset Deafness in Border Collies. PLoS Genet 8(9): e1002898. doi: 10.1371/journal.pgen.1002898
projectDOG Ongoing research into Rhodesian Ridgeback deafness.
Wilkes MK, Palmer AC (1992) Congenital deafness and vestibular disease defecit in the Doberman. J Small Anim Pract 33: 218-224.»
Journal of Small Animal Practice Pending
Wilkes MK, Palmer AC (1992) Congenital deafness and vestibular disease defecit in the Doberman. J Small Anim Pract 33: 218-224.