Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye. It is generally considered to be congenital in dogs and has been associated with glaucoma and blindness. Goniodysgenesis and early-onset glaucoma emerged in the Border Collie breed in Australia in the late 1990s and has since been found in Europe and the USA. Read more about A mutation in Olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in Border Collies[…]

Through the French Cani-DNA biobank, developed in the team since 2005, we have collected over 3000 samples (blood and paired tumour/normal tissues) form many dogs affected by breed specific cancers, as well as controls of the same breeds, for which there are specific issues in the human corresponding cancers. Indeed, naturally occurring canine cancers are Read more about Canine breed specific cancers as natural models for rare and/or aggressive human cancer types: examples of sarcomas, melanomas, lymphomas and gliomas.[…]

Inherited retinal degenerations are a clinically and genetically heterogeneous group of diseases affecting both humans and dogs. Approximately 30 genes have so far been identified in various dog breeds. One of the most widespread mutations is the p.C2Y mutation in the PRCD gene causing progressive retinal atrophy (PRA) which primarily affects rod photoreceptor cells. The Read more about A novel form of retinal degeneration in Labrador retrievers[…]

Human glioma are brain cancers with a dramatic 5 year survival time of 5% even applying the unique reference treatment based on radio- and chemotherapy. Interestingly, among the many dog breeds prone to spontaneously develop cancers, brachycephalic breeds (Boxers, Bulldogs, Boston terriers…) are particularly affected by glial tumors. Dogs share the same environment as humans Read more about Glioma in dogs: interest of spontaneous models for the genetics of human gliomas[…]

Dog represents a spontaneous model of many genetic diseases including cancers and other multifactorial diseases as well as monogenic diseases. The last 10 years, genetic tools dedicated to dogs allowed to identify the genetic causes or predisposition to canine and human homologous genetic conditions. More recently, the idea emerged that dogs can be of help Read more about Cani-DNA: a French National biobank of canine samples for dog/human compared biomedical research.[…]

The advent of whole genome sequencing (WGS) has promised to revolutionise genetic research, and the rapid fall in per-sample costs in recent years has made the revolution an affordable reality for geneticists. The technology is especially useful for the study of simple Mendelian conditions where disease-causing mutations have the potential to be identified from the Read more about Give a Dog a Genome: generating a stake-holder funded bank of whole-genome sequences with which to elucidate benign and disease-associated variation within the canine genome[…]

Genetic improvement with the use of Estimated Breeding Values (EBV) is a method which, after decades of successful and validated use in livestock species, slowly gains recognition in the world of dogs breeding. However, accurate EBV prediction for complex traits requires large datasets of phenotyped and related animals. While generation of such datasets is possible Read more about Use of cross-country data for estimation of heritability of longevity and heart-related deaths in Doberman Pinscher[…]

In humans, there are many forms of sensory neuropathies, associated or not with a loss of sensitivity to pain and sometimes accompanied by self-mutilation. Although to date 13 genes have already been implicated in this disease, they do not explain the genetic causes of all patients. Similar neuropathies are diagnosed in dogs and several breeds Read more about A dog spontaneous model for human sensory neuropathies: Identification of a mutation in a regulatory region of GDNF and DNA screening in human patients.[…]