Dog2Man: Dog genetics to unravel complex diseases in man

Translation of high-throughput genetics from inbred dogs to identify mutations involved in complex genetic diseases in humans

The Expertisecentre of Genetics (Utrecht University) and PolyKnomics BV, specialists in -omics studies in humans, collaborate in this public private partnership that aims to accelerate the identification of disease-causing mutations in complex hereditary diseases in humans using data from genetic studies in dogs.  

The majority of disease burden in humans consists of hereditary disorders. This includes rare hereditary syndromes and common diseases like diabetes, cardiovascular diseases and cancer where both hereditary predisposition and lifestyle factors are important in the etiology. The occurrence of any of the rare syndromes is infrequent, however taken together they affect approximately 1 in 100 births worldwide. Genetic studies in humans are challenging due to the variability in the human genome and the difficulties in linking genetic variations to clinical disease. Together, the various challenges faced in rare and common hereditary diseases leave many human hereditary diseases incompletely understood, resulting in a negative impact on development of new diagnostics and therapeutics.  

Canine diseases closely resemble human hereditary diseases. Genetic studies in inbred dogs have higher statistical power for identification of causal mutations compared to human genetic studies. In this collaboration the Expertisecentre of Genetics and PolyKnomics BV bundle their expertise to develop an automated data-analysis pipeline for high-throughput genetic studies in dogs and automated comparison and linking with similar human genetic diseases.  

This innovative approach will lead to an acceleration of the understanding of the complex genetic background of specific hereditary disorders in humans. As a proof of concept soft tissue sarcoma and developmental disorders of the kidney and urinary tract will be investigated in this project. New mutations that are proved to be causal in canine diseases will be directly tested in human patients with an unknown genetic diagnosis. This new approach will lead to improvement in diagnostics, prognostics and therapeutics for both dogs and humans.  

Hereditary diseases in dogs and humans are very similar. Genetic studies in dogs are a powerful tool to identify new mutations for complex hereditary diseases. Comparing results from canine and human genetic studies will lead to an acceleration in identification of disease-causing mutations and subsequently improve diagnostics in both species.
Technology Readiness Level (TRL)
1 - 3
Time period
24 months