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New DNA Bank in Finland


Discovering Disease Genes in Dogs and Humans Hannes Lohi, PhD, Docent


University of Helsinki and Folkhälsan Institute of Genetics


Rapid development of biomedical research in the past decade has revolutionized the research of genetic dis- eases. Thousands of disease genes have been discov- ered and that has resulted in early diagnostics and prevention as well as better treatment of the diseases. This development was greatly boosted by the interna- tional Human Genome Project, which has facilitated the identification of the risk alleles/disease genes in many conditions.


A Geneticist’s Dream | How to Contribute


Researchers at the University of Helsinki are interest- ed in collection samples from dogs affected by genetic disorders as well as their siblings and parents in order to pursue identification of genes responsible and to develop appropriate genetic testing.


As of August 4, 2010, the bank currently contains samples for 72 English Toy Terriers and 6 Manches- ter Terriers. Samples from around the world are wel- come!


If you are interested in participating or contributing to this research, please email hannes.lohi@helsinki.fi


Recently, the dog’s genome has also been sequenced providing us an opportunity for many new gene dis- coveries. The dog is a geneticist’s dream because each pure breed represents a group of genetically similar animals that descended from only a few ancestors. The presence of hundreds of breeds of dog, each in an isolated breeding population, allows us to simplify a complicated genetic problem. Most breeds have been artificially created by man and this selective breed- ing has resulted in amazing variation between breeds with respect to weight, size, head shapes, coat, ear shape, behaviors and diseases. Since any traits associ- ated with a given breed must result from a shared set of genetic determinants, these genes stand out much more obviously than they would in a population of unrelated, or genetically dissimilar, animals.


The large number of reported diseases in dogs is 48


due to the founder effect and inbreeding practices in pure-bred dogs that uncover recessive disease alleles. Through aggressive breeding programs, man has cre- ated over 400 different breeds of dog and burdened them with over 400 inherited diseases during the last 400 years. This places dogs as the species with the second largest number of known genetic diseases, surpassed only by humans. Genetic analysis of man’s best friend will help to uncover the genes responsible for the physical features and behaviors unique to each breed as well as the diseases to which they are com- monly susceptible, such as cancer, epilepsy, allergies, deafness, blindness, heart disease and hip dysplasia.


At the same time, more than 60% of canine inherited diseases are shared with humans and the coding se- quences of dogs and humans show an overall greater similarity to each other than to mouse coding se- quences. Thus, dogs can be used as models to under- stand many human diseases and to develop new more efficient and side-effect free therapies. Importantly, genetic research in dogs is believed to facilitate the understanding of genetic background of the common complex diseases, which have proven difficult to crack down in human. Dogs have faithfully served man in many duties and they are now also the best assistants of the geneticists!


Taking Action


I have started a canine genetic program in the Uni- versity of Helsinki, Finland. Our objective is to collect many breeds of dogs with different inherited diseases and try to identify the genetic defects behind them. Potential gene discoveries will help us to devise DNA markers and tests, which can be used to reliably dis- tinct affected, carrier and healthy dogs. This will help the breed club to redesign the breeding programs to start systemically to prevent or eradicate the disease in the breed. This is important since it allows us to keep also the carrier dogs in the population and de- velop the breed in a more controlled way.


BLACK & TAN | FALL 2010


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