Canine Genetics Research Day

The Kennel Club Genetics Centre (KCGC) held a first Research Day on Friday 22 September 2023 at the University of Cambridge’s West Hub facility. It was the first such day we have hosted since the demise of the Animal Health Trust and subsequently joining the University of Cambridge in 2021.

The event was attended by 44 representatives of 29 breeds. Thank you to each of you you made the journey to Cambridge to see us. We hope you enjoyed it as much as we did.

Keep reading to view photos taken on the day, to view the video recordings taken on the day, and to provide feedback to help us host even better similar days in the future.

Image Gallery


Opening remarks

Opening remarks were made by Dr Cathryn Mellersh (head of the Kennel Club Genetics Centre) and Prof Mike Herrtage (trustee of the Kennel Club Charitable Trust).

Talk 1 – Inherited Eye Disease

Talk 1 was about our Inherited Eye Disease (IED) program, given by Dr Cathryn Mellersh (Kennel Club Genetics Centre).

Talk 2 – Intervertebral Disc Disease

Talk 2 was about our proposed Intervertebral Disc Disease (IVDD) research. A clinical overview of the disease was given by Prof Paul Freeman (Queens Veterinary School Hospital), followed by the genetics of IVDD by Dr Louise Burmeister (Kennel Club Genetics Centre).

Talk 3 – Complex Diseases

Unfortunately recording of this talk on the day didn’t work out, but we hope to provide a separate recording soon.

Question and Answer session

Delegates submitted questions during the course of the day, which we collated and tried to answer in the final question and answer session.


    This was the first time we have hosted a day like this, so naturally there were a few problems and areas where we can improve next time. Some were out of our control, but we still want to do what we can to make future such days an even greater success.

    We would love to hear your thoughts and recommendations about any of the aspects below (good and bad)?


    Exercise induced paroxysmal movement disorder in Weimaraners

    The Kennel Club Genetics Centre has an archive of over 40,000 DNA samples that has been collected over decades.  This collection, which contains DNA from dogs of nearly two hundred different breeds of dog, has played a central role in all the KCGC’s successful research projects.  But it has also contributed to research done by teams of researchers from other institutions.


    Exercise induced paroxysmal movement disorder in Weimaraners

    Recently, Rodrigo Gutierrez-Quintana (University of Glasgow) and Tosso Leeb and Matthias Christen (University of Bern) have been investigating the genetics of a disease called exercise induced paroxysmal movement disorder (PMD) in Weimaraners.  The disease affects young Weimaraner puppies (younger than 8 months of age) who present with episodic gait abnormalities characterised by muscle stiffness, arched back and wobbliness. The episodes last 5-15 minutes and are triggered by excitement and/or exercise. In between the episodes the dogs appear normal. The investigations started with the diagnosis of a small number of affected puppies from the UK and have progressed to the identification of the causal genetic defect.

    Working with Rodrigo and Tosso, the KCGC has genotyped DNA from 26 UK Weimaraners that we have in our research sample collection and have identified two dogs that are heterozygous (carriers) of the causal disease allele.

    The disease is recessive, meaning heterozygous dogs will not be clinically affected but will pass the disease allele (mutation) to half of their offspring.  Dogs that inherit a copy of the disease allele from each parent will be affected, assuming the candidate variant is indeed the cause of this disease.  The frequency of the disease allele in the 26 dogs is just under 4%; if this is representative of the UK population we expect 1 or 2 dogs a year to be affected (assuming random breeding with respect to the variant).

    DNA Test for PMD

    These findings have been submitted to a scientific journal for peer-review.  Meanwhile a DNA test based on the PMD variant is available from the Canine Genetic Testing service that is based at the University of Cambridge.

    For any enquiries about the research please contact us.

    Multiocular defect in Old English Sheepdogs

    Multiolcular defect in Old English SheepdogsIn recent years multiple dogs of the Old English Sheepdog (OES) breed have been diagnosed with an ocular (eye) disease that can affect multiple parts of the eye and is therefore known as multiocular defect (MOD). Most affected dogs suffer from cataracts, but additional abnormalities can include any of the following:

    • microphakia (small lens),
    • lens coloboma (a hole in the lens),
    • macrophthalmos (enlarged globe),
    • retinal detachment,
    • vitreopathy and
    • retinal degeneration


    The Kennel Club Genetics Centre (KCGC) at the University of Cambridge has been investigating the genetics of MOD in the Old English Sheepdog breed. By analysing the whole genome sequence of an affected OES generated via the Give a Dog a Genome Project, the team were able to identify the likely causal variant for MOD. The variant is a single nucleotide substitution located within an exon (the part of the gene that creates the protein) of a gene called COL11A1. The variant is predicted to change the amino acid sequence of the corresponding protein in a way that damages the protein and is therefore a ‘missense’ variant. It has a dominant mode of inheritance as dogs with either one or two copies of the variant are clinically affected by MOD.

    Mutations in COL11A1 have been reported to cause a dominant form of Stickler Syndrome (STL2) in humans, which shares clinical features observed in MOD affected OES. There is evidence that affected dogs with 2 copies of the variant, i.e. homozygous for the variant have a more severe phenotype. The disease has an early age of onset.

    For enquiries about the research contact the Kennel Club Genetics Centre.

    DNA Test for MOD

    The results of this study are currently being prepared for submission to a scientific, peer-reviewed journal. In the meantime, a DNA test for MOD In OES Is exclusively available from Canine Genetic Testing, and can be purchased as a single test or as part of a bundle of discounted tests (available from 9 January 2023).

    Give a Dog a Genome Update – June 2021


    Give a Dog a Genome (GDG), launched in 2016, was an ambitious project aimed initially at sequencing the entire genomes of 50 dogs of 50 different breeds.  The genome bank was created by researchers working in the Kennel Club Genetics Centre (KCGC), to facilitate the identification of genetic variants that underpin painful, blinding and debilitating inherited canine disorders.  Give a Dog a Genome was jointly funded by the Kennel Club Charitable Trust and individual breed communities.

    When Give a Dog a Genome was launched the KCGC was based at the Animal Health Trust (AHT) but following the permanent closure of the AHT in July 2020, the KCGC has now relocated to the Department of Veterinary Medicine at the University of Cambridge.



    Interest in GDG exceeded expectations, and ultimately 77 different breed communities contributed funds towards the cost of sequencing the genomes of 89 different dogs.  Some of the dogs were affected with a disorder known to be a problem for their breed whereas others were healthy older dogs.  Sequencing of all 89 genomes was completed prior to the closure of the AHT and all of the genome sequence data, together with the KCGC’s collection of approximately 40,000 DNA samples, have been moved to the University of Cambridge where they are stored safely.

    The 89 GDG whole genome sequences (WGS) have been added to additional WGS generated by the KCGC for other breed- or disease-specific projects and at the time of writing the KCGC genome bank contains the sequences of 218 dogs of 100 different breeds.

    The genome bank is utilised for every investigation the KCGC undertakes, regardless of the breed or the disease being investigated.  Specific genome sequences within the bank are used as ‘cases’, when the dog that the sequence belongs to was affected with a disease that is the subject of the specific investigation.  In contrast, genome sequences are used as ‘controls’ if they are from dogs of a different breed, or that are unaffected with the disease being investigated.  Frequently, a genome sequence will be used as a case in one study and a control in another.  Thus, every WGS contributes to every study, and therein lies the power of the genome bank.

    Studies are currently underway within the KCGC to investigate specific inherited disorders that are of concern to particular GDG breed communities.  For example, we have used GDG data to successfully identify the mutation responsible for a novel progressive retinal atrophy (PRA) syndrome that affects Shetland Sheepdogs, and GDG data also played a central role in a similar project to identify the mutation responsible for PRA in the Lhasa Apso.  Idiopathic epilepsy (IE) is a disorder with more complex underlying genetics that the KCGC is actively investigating, and the GDG sequences from dogs affected with IE will play a very important role in those studies as they progress.

    The KCGC has shared some of the GDG data with researchers at other institutions who are investigating different inherited disorders to those we are investigating, so we anticipate GDG data will benefit studies beyond those undertaken by the KCGC.

    Over the coming months and years, the KCGC will continue to analyse the GDG data and share it with other researchers.  As time and resources permit, we will expand the number of inherited disorders that are the subject of targeted investigations, and we fully expect GDG data to contribute positively to our research for decades to come.

    Dr Cathryn Mellersh
    The Kennel Club Genetics Centre
    Department of Veterinary Medicine
    University of Cambridge