The Rhodesian ridgeback is an active and intelligent dog breed that requires a lot of stimuli and exercise, such as agility. Unfortunately, many Rhodesian ridgebacks also suffer from epilepsy.
Thanks to new research, we now know the reason for the prevalence of this disorder.
A research group led by Hannes Lohi, a professor in molecular genetics at the University of Helsinki, is studying canine genes and looking for hereditary diseases. Whether it’s the epilepsy gene found in Rhodesian ridgebacks or a neurodegenerative disease found in the truffle-hunting Lagotto romagnolo breed, research findings by Lohi's group often provide opportunities for expanding the perspective outside the canine genome.
At best, these new gene defect findings help identify disease mechanisms and develop treatments also for humans.
Breeding causes diseases and supports research
Canine genetic research enables the study of human diseases as well, since dogs and humans share, in addition to similar genetic and disease heritage, the same living environment. We do, after all, live side-by-side with our pets, often even sleeping in the same bed.
Professor Lohi lists more reasons why canine genetic research is beneficial also to humans.
“First of all, centuries-long breeding by humans has differentiated dogs, which originate from wolves, into individual breeds. Through breeding, a selection of various hereditary disorders have accumulated in the genome of different breeds. These are relatively easy to study, since each breed has a very limited population and unique genome”, says Lohi.
Another advantage of canine research is that the diseases under investigation occur naturally in dogs, whereas in the case of mice, often used for research purposes, diseases need to be artificially generated in a laboratory environment. In certain cases, the canine life-cycle, which is long compared to that of mice, is also advantageous.
In dogs, diseases develop much in the same way as in humans.
Dogs resemble humans more than mice also as regards size, physiology and vital functions, in addition to which disease progress in dogs resembles closely the corresponding progress in humans.
“Dogs provide natural disease models for the most common diseases. Utilising research results in an increasingly versatile manner may benefit both species and create significant savings for the pharmaceutical industry by providing an opportunity to study drugs intended for human use directly in dog subjects without a costly stage with mice”, envisions Lohi.
Citizen science through the DNA bank network
The group led by Lohi has based its research primarily on a canine DNA bank that provides research material for the group. Long-term work for accumulating data in the biobank has been ongoing for a decade already.
Currently, the canine DNA bank holds more than 65,000 samples from 330 different breeds. Tissue and blood samples have been collected from dogs whose owners have voluntarily participated in the project. The DNA bank network has been built in cooperation with dog owners. It is a significant achievement even on a global level and an infrastructure that works as the foundation for all research related to canine genetics conducted in Finland.
The idea for the DNA bank originally came from Lohi, but it has been refined along the way.
“At first, the need for this type of extensive canine DNA and tissue bank was not obvious. I was giving consideration to focusing on a single breed and disease. For a novice research group leader, it takes a modicum of courage to embark on a project of this size with your first grants", explains Lohi.
Articles in the Koiramme (“Our Dogs") magazine published by the Finnish Kennel Club, among other things, were quick to give the project a boost for expansion. For a couple of years, Lohi himself toured around Finland, giving lectures at dog clubs and breed associations. This way, dog owners received first-hand knowledge of what the DNA bank is collecting, what the samples are used for and how research is conducted.
“Dog owners have taken to this extremely well, giving their contribution to citizen science. Dog hobbyists and breeders in particular are interested in gene tests that help eliminate unwanted diseases from entire breeds”, says Lohi.
According to Lohi, the DNA bank is not merely a collection of blood, tissue and DNA samples. It is also a network for dog owners that care for the wellbeing of their pets.
In addition to the samples, the bank contains contact details for breed associations and dog owners, as well as dog patient information. The network also includes veterinarians and clinics working in cooperation with the research group.
Cooperation is also conducted with other European and American canine biobanks. Sample and data exchange is active, while mutual assistance to partners is offered.
Standard for DNA testing as an objective
Businesses are also interested in canine genetic research.
Genetic research findings can be used to develop gene tests for dog breeds that help redefine their breeding programmes. Diseases can be eliminated from breeds, while preserving the genetic diversity of breeds.
In practice, two dogs carrying the same genetic defect are not mated in order to prevent sick offspring.
“The research has quickly produced dozens of new gene tests to be used in breeding. Veterinarians utilise them in diagnosing diseases and in differentiation diagnostics. They are used all over the world”, says Lohi.
Lohi has also taken part in developing the first canine genetic panel test in the world. Through MyDogDNA, the carrier state of hundreds of diseases and traits can be assessed and reported with a single, affordable test.
MyDogDNA was launched in 2013. At the moment, its licensee is the American company Mars Veterinary that aims to further develop the test in cooperation with the University of Helsinki into a global standard in canine DNA testing.
Application potential motivates the professor.
“Genetic research findings have increased our biological understanding of many diseases. At the same time, we have gained concrete tools for promoting canine and human health. This makes the work inspiring and varied”, says Lohi.
Help in diagnosing human diseases
The dominant trend in medical science is leading towards individualised care. The group led by Lohi is conducting cooperation with research on human genetics. This collaboration enables the comparison of findings in studies on canine and human genes.
Diseases found in canine genes may occasionally help diagnosing rare diseases in humans. In 2017, Lohi’s group found the ATG4D gene, linked successfully to canine ataxia, or a central nervous system coordination disorder of somatic muscles, underlying a neurodegenerative disease.
“I recently met with a mother whose younger son was diagnosed with a rare neurodegenerative disorder thanks to our earlier findings in canine genetics. Now this disease is under investigation in at least three universities, with the goal of developing a drug treatment in time to help the boy”, says Lohi.
Without canine genetic research, there would be no hope of a cure for the boy.
At the same time, knowledge of the causes and consequences of neurodegenerative diseases, as well as their treatment, increases.
“Even though dogs are important to us just in themselves, our fundamental goal is the promotion of human health. I believe dogs have something to contribute here too", says Lohi.
Digital leap and behavioural studies
The latest opening in the field of research by Lohi’s group are canine behavioural disorders. Dogs often present problems similar to humans, such as fear and anxiety. Some of these problems may be caused by their surroundings, others may be, according to Lohi, hereditary.
Behavioural disorders cannot be pinpointed to individual genes.
Behavioural research poses new challenges to the team, since behavioural disorders cannot be pinpointed to single genes. Instead, some problems originate in the early development of the individual.
“Studying canine behaviour is fundamentally interesting due to the close, almost symbiotic relationship between dogs and humans. Genes related to behaviour and behavioural disorders are not well known, and our aim is to find out more about them through canine studies.
What about specimens known as design animals with a modified genome? In Korea, for example, pet dogs have already been cloned. Is there demand for this type of activity in Finland? According to Lohi, Finnish dog owners have not yet expressed particular interest in cloning pets, and neither is the subject part of the group's research strategy.
Lohi’s group, however, wants to provide Finnish pet owners with increasingly better services.
A pilot project for a mobile application, developed in cooperation with the Petsofi company, is currently ongoing. The aim is to develop what is known as a live biobank platform. In time, the service will be available also to animal service professionals in various fields whose cooperation will ultimately benefit both dogs and dog owners, as well as humans in general.
Lohi, who has accumulated 65,000 samples into the DNA bank, knows the power and knowledge inherent to networks. These strengths must be preserved and utilised in an increasingly efficient manner.
Feline genetics also under investigation
Activities conducted by the Lohi group have broadened along the way, as cat owners, like dog owners before them, have become interested in investigating diseases carried by their pets.
Today, the feline DNA bank holds nearly 5,000 samples from approximately 40 different breeds. The group has been mapping the health of Finnish pedigree and native breeds. This year, the aim is to expand both the ongoing genetic investigation and research on feline behaviour and personality traits.
Genoscoper, the company originally behind MyDogDNA, has developed a gene panel test for identifying known disease genes and traits in cats.
Research group websites:
Previous press releases by the Lohi research group
Significant epilepsy gene discovery in dogs
Delayed weaning reduces behavioural problems in cats
Gene finding to eradicate severe blistering disorder of the skin found in dogs
New insights into human rare disorders with dogs