Group Lohi

Canine Models of Inherited Diseases

We aim to understand the genetic origin of diseases. We pursue gene identification in dogs as a highly relevant model for human diseases. We have established a large Dog DNA bank with ~ 60,000 samples from 330 different breeds. This provides a significant resource for various genetic studies.

Genetic studies using association and next generation sequencing approaches have been conducted or are running in numerous different conditions, including idiopathic epilepsy, ataxia, neurodegeneration, eye diseases, anxiety and several developmental abnormalities. We have revealed a novel genetic loci and genes in many of the disorders and continue to validate and characterize the genes and related pathways in different models, including human patients. We have discovered several new genes for the conditions described above. This has provided new candidate genes for human conditions, improved understanding of the related disease mechanisms, and has enabled the development of new gene tests for diagnostic and breeding purposes in dogs. In addition, we are currently in a process of developing a novel metabolomic test for dogs as an additional diagnostic and research tool to support ongoing diseases studies.

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Post-Doctoral Scientists

Marjo Hytönen, PhD

Elina Salmela, PhD

Cesar Araujo, PhD

Kaisa Kyöstilä, PhD

Graduate Students

Meharji Arumilli, MSc

Saila Holopainen, DVM

Maria Kaukonen, DVM

Lea Mikkola, MSc

Jenni Puurunen, MSc

Milla Ahola, MSc

Julia Niskanen, MSc

Kati Vapalahti, MSc

Undergraduate Students

Sruthi Hundi, BSc


Sini Karjalainen, Laboratory Assistant

1. Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C and Lohi H. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PloS Genet, 2016.

2. Puurunen J, Tiira K, Lehtonen M, Hanhineva K & Lohi H. Non-targeted metabolite profiling reveals changes in oxidative stress, tryptophan and lipid metabolisms in fearful dogs. Behav Brain Funct. 12(1):7, 2016.

3. Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner B, Henke D, Oevermann A, Kere J, Lohi H*, Leeb T*. A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease, PloS Genet, 11(4):e1005169, 2015. * co- corresponding

4. Tiira K and Lohi H. Early life experiences and exercise associate with canine anxieties, PLoS ONE, 10(11):e0141907, 2015.

5. Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P and Lohi H. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum -associated protein degradation (ERAD) machinery. PLoS Genet, 8(6): e1002759, 2012.

6. Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S, Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 Truncation Causes A Remitting Focal Epilepsy in Dogs, PLoS Genet, 7(7):e1002194, 2011. Highlighted in “Disease models and mechanisms” Journal, 2011, p. 558.

7. Wilbe M, Jokinen P, Truvé K, Seppala E, Karlsson E, Biagi T, Hughes A, Bannasch D, Andersson G, Hansson-Hamlin H*, Lohi H* and Lindblad-Toh K*. Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex. Nat Genet, 42(3):250-4, 2010. *co-directed.

8. Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K & Leeb T. Identification of the canine hairless mutation reveals an essential role for FOXI3 in ectodermal development. Science 321(5895):1462, 2008.

9. Lohi H, Young EJ, Fitzmaurice S, Rusbridge C, Chan, Vervoort M, Turnbull J, Ianzano L, Paterson AD, Sutter N, Ostrander EA, Andre C, Shelton DG, Ackerley CA, Scherer 2013- SW, Minassian BA. Expanded repeat in canine epilepsy. Science, 307:81, 2005. Highlighted in the Kids Summary in the same Issue.

10. Mnatzakanian GN, Lohi H, Munteanu I, Alfred S, Yamada T, MacLeod PJM, Jones JR, Scherer SW, Schanen CN, Friez MJ, Vincent JB, Minassian BA. A novel MECP2 open reading frame defines a new Rett syndrome relevant isoform. Nat Genet, 36(4):339-41, 2004.

Folkhälsan Research Foundation

Academy of Finland

Biocentrum Helsinki

Dog Health Research Fund

European Commission

European Research Council

Jane and Aatos Erkko Foundation

Morris Animal Foundation

Sigrid Jusélius Foundation

Suomen kissaliitto (“Finnish Cat Association”)

University of Helsinki

Dog and Cat Breed Clubs



    • Hannes Lohi

      PhD, Professor, Group Leader

    • phn:

    • Folkhälsan Research Center P.O. Box 63, FI-00014 University of Helsinki

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