About

What is Intervertebral disc disease (IVDD)?

Intervertebral disc disease (IVDD) is the most common cause of spinal injury in dogs with clinical signs ranging from pain to complete, irreversible paralysis of the limbs. IVDD can affect all breeds but chondrodystrophic (short-legged) breeds are at highest risk, which is a significant concern given their popularity.

Simply put, IVDD refers to the process whereby the spongy, cushioning discs that sit between the vertebrae lose their ‘sponginess’. When this happens the discs can bulge or even burst into the space between the vertebrae that contains the spinal cord. When the disc material pushes on the spinal cord, it can cause pain, nerve damage, and even paralysis.

What is known about the genetics behind IVDD?

An over-expressing FGF4 retrogene on CFA12 (named 12-FGF4RG and also referred to as Chondrodystrophy (CDDY)) has been unequivocally identified as a genetic risk factor for IVDD in chondrodystrophic breeds as well as being associated with short legs (Brown, E.A. et al.) and this variant forms the basis of genetic screening tools available globally. Reducing 12-FGF4RG allele frequency clearly has the potential to lower IVDD incidence but for breeds where 12-FGF4RG frequency is very high/fixed this is not an option. For these breeds, the successful reduction of IVDD incidence will rely on identifying as many additional risk factors as possible.

Despite sharing the FGF4RG risk factor, there are quite big differences in the IVDD disease process between different chondrodystrophic breeds, including disease incidence, the typical age when IVDD occurs and the location in the spine of affected discs. For this reason we believe that additional genetic and/or environmental/lifestyle risk factors must be involved and that these might well represent be a better way of reducing the risk of IVDD than screening for 12-FGF4RG, for some breeds.

Are there other risk factors that lead to IVDD?

Intervertebral disc disease (IVDD) is the most common cause of spinal injury in dogs with clinical signs ranging from pain to complete, irreversible paralysis of the limbs. IVDD can affect all breeds but chondrodystrophic (short-legged) breeds are at highest risk, which is a significant concern given their popularity.

Simply put, IVDD refers to the process whereby the spongy, cushioning discs that sit between the vertebrae lose their ‘sponginess’. When this happens the discs can bulge or even burst into the space between the vertebrae that contains the spinal cord. When the disc material pushes on the spinal cord, it can cause pain, nerve damage, and even paralysis.

Our current work investigating IVDD

Dachshunds are overrepresented in most reports of IVDD, with about 15% of all Dachshunds likely to develop IVDD during their lifetimes (Packer. R.M. et al., Wee, C. & Nin, D. et al.). For this reason our investigations are currently focused on Dachshunds although we have also recently reported on lifestyle and conformation risk factors for IVDD in Cocker Spaniels (paper accepted for publication). In time, and with appropriate funding, we hope to extend our investigations into other breeds, some of which might benefit directly from our findings in Dachshunds.

Whole Genome Sequencing

We have generated whole genome sequence data from 27 miniature smooth longhaired dachshunds (MSHD). The cohort includes 18 dogs that have been affected by at least one intervertebral disc extrusion (IVDE)and nine control dogs. The IVDE affected dogs are equally distributed between nine male (6 neutered and 3 intact) and nine female (5 neutered and 4 intact) dogs, with age original presentation ranging from 2 to 7 years old. This work was funded by a grant from CamVet.

The sequence data will shortly be analysed to identify genetic variants that are at increased frequency in the affected dogs compared to the unaffected dogs, that could potentially have an effect on a protein and/or that lie in genes that are potential candidates for a role in IVDD. Candidate variants will be followed up in larger cohorts of affected and unaffected dogs to confirm any that are reproducibly associated with IVDD.

Genome Wide Association

In partnership with Wisdom Panel, and in collaboration with Drs Merete Fredholm and Helle Friis Proschowsky (University of Copenhagen) we will shortly be undertaking a genome wide association study with Dachshunds that have been screened under the Nordic or UK x ray screening schemes. Up to 300 Dachshunds will be genotyped using the Wisdom Panel proprietary chip and the data analysed to identify regions of the genome that are associated with disc calcification, in addition to the previously identified region that harbours the FGF4RG variant. Positive findings will, we hope, lead to the identification of additional genes that are involved with the disc calcification process, and a better understanding of the aetiology of the disease.

WHAT DOES THE FUTURE HOLD

This partnership has made significant improvements to dog health and welfare over the last 10 years. With the knowledge that can now be gained from analysis of DNA sequenced data in the canine genome bank, we could very quickly accelerate forward another 20 years. Scientists in the KCGC at the AHT aim to get better and faster at identifying mutations using smaller numbers of dogs and improved technology.

One of the key benefits of finding mutations in this way is that a disease can often be stamped out before it takes hold in a breed.

The KCGC team also plan to tackle complex genetic diseases, such as epilepsy, as these diseases potentially compromise the health of the greatest number of dogs. Of the 489 currently known genetic diseases in dogs, 72% are believed to be complex.

Raising awareness of health testing among puppy buyers is also key. There are still too many people unaware of what health tests are available and not checking that parent dogs have been tested for known conditions. The partnership wants to ensure potential puppy buyers know what they should be asking, so they purchase not only an appropriate puppy for their lifestyle, but also one that has benefited from health testing and will have the very best start in life.

Cathryn Mellersh summarised: “The last ten years have been incredibly important to dog health. Thanks to the partnership with The Kennel Club so many dogs are benefitting from DNA tests, and that’s improving the lives of generations of animals. Great things can and are being achieved through genetic research. With humans suffering many of the same diseases as dogs, there is always the possibility that our research is going to help human medicine as well.

“We are incredibly grateful to The Kennel Club Charitable Trust and its members for its ongoing support, and look forward to continuing to make life better for thousands of dogs.”

Recent Publications

Wade CM et al. Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin-6. Anim Genet. 2025 Dec;56(6)

Ricketts SL et al. Common variants in the CPT1A gene are associated with cataracts in Northern breeds of domestic dog. PLoS One. 2025 Apr 4

Jenkins CA et al. Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed. PLoS One. 2025 Mar 5

Support the CGC by using Canine Genetic Testing (CAGT) for all your DNA testing needs.

UK-based and 100% of profits are reinvested into our research.