A mutation in Olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in Border Collies

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[…]

Canine breed specific cancers as natural models for rare and/or aggressive human cancer types: examples of sarcomas, melanomas, lymphomas and gliomas.

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.[…]

A novel form of retinal degeneration in Labrador retrievers

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[…]

Genetic approaches to Brachycephalic Obstructive Airway Syndrome in three canine breeds.

Introduction: Brachycephalic obstructive airway syndrome (BOAS) is a serious health and welfare problem for many brachycephalic dogs, and is beyond any doubt the most divisive issue within companion animal medicine in the UK at the present time. Whilst the genetics of brachycephaly have been investigated elsewhere, the genetics of BOAS have received less attention: in Read more about Genetic approaches to Brachycephalic Obstructive Airway Syndrome in three canine breeds.[…]

Data cleaning; is it time to stop sweeping it under the carpet? An example from the Dogslife project.

Even with careful study design and extensive validation, large datasets are often heterogeneous and require cleaning prior to analysis to prevent losses in research validity, quality and statistical power. Many publications report that data was ‘cleaned’ but few studies document the process reproducibly and values identified as ‘outliers’ are commonly deleted without reporting the possible Read more about Data cleaning; is it time to stop sweeping it under the carpet? An example from the Dogslife project.[…]

Detection and Characterisation of a Genetic Association with Norwich Terrier Upper Airway Syndrome

In domestic dogs, the “flat-faced” brachycephalic head shape is a risk factor for developing the respiratory defect, Brachycephalic Obstructive Airway Syndrome (BOAS). As the popularity of breeds such as the French bulldog continues to increase in the UK, so too are the expected incidences of BOAS. For this reason, we became interested in the Norwich Read more about Detection and Characterisation of a Genetic Association with Norwich Terrier Upper Airway Syndrome[…]

Extensive whole genome sequencing comparisons in dogs elucidates a putative novel candidate gene for retinal degeneration.

Retinitis pigmentosas (RP) are genetically heterogeneous, progressive diseases characterised by retinal degeneration and causing loss of vision before middle age, and affecting in 1 in 2000 humans. The canine equivalent, progressive retinal atrophy (PRA) is untreatable and affects multiple dog breeds, significantly impacting dog welfare. A novel form of PRA was diagnosed in a family Read more about Extensive whole genome sequencing comparisons in dogs elucidates a putative novel candidate gene for retinal degeneration.[…]

Glioma in dogs: interest of spontaneous models for the genetics of human gliomas

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[…]

Ontogenic Transcriptomic Profiling Identifies Signalling Pathways Driving Pathogenesis in Canine Myxomatous Mitral Valve Disease

Background Chronic degenerative diseases (CDGs) are a major welfare concern in canine medicine with myxomatous mitral valve disease (MMVD) being an important example. For some breeds CDGs can have an inherited basis, but often this is a polygenic trait and so understanding the mechanisms that drive disease pathogenesis requires examining molecular events in tissue. Specifically Read more about Ontogenic Transcriptomic Profiling Identifies Signalling Pathways Driving Pathogenesis in Canine Myxomatous Mitral Valve Disease[…]

The association of environmental and genetic factors with behavioural traits in two popular purebred dog breeds

As a companion animal, a dog’s lifestyle is mainly determined by its owner. A major component of a dog’s well-being relates to its integration into the physical and social environment provided by the owner. Discrepancies between the dog’s genetically-influenced temperament and the owner’s lifestyle might lead to the occurrence of unwanted behaviours that affect both Read more about The association of environmental and genetic factors with behavioural traits in two popular purebred dog breeds[…]