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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Senior Scientist

Marjo Hytönen, PhD, Administrative Group Leader

Post-Doctoral Scientists

Cesar Araujo, PhD
Ileana Quintero, PhD
Elina Salmela, PhD
Kaisa Kyöstilä, PhD

Graduate Students

Jenni Puurunen, MSc
Julia Niskanen, MSc
Kati Vapalahti, MSc
Emma Hakanen, MSc
Kati Dillard, DVM
Lea Mikkola, MSc
Maria Kaukonen, DVM
Meharji Arumilli, MSc
Milla Ahola, MSc
Saila Holopainen, DVM

Undergraduate Students

Katariina Sarin, BSc
Soile Rummukainen, BSc


Kaisu Hiltunen, bioanalyst
Reetta Hänninen, MSc
Salla Mikkola, MSc
Sini Karjalainen, Laboratory Assistant
Sruthi Hundi, MSc, Bioinformatician

Wielaender F, Sarviaho R, James F, Hytönen MK, Cortez MA, Kluger G, Koskinen LLE, Arumilli M, Kornberg M, Bathen-Noethen A, Tipold A, Rentmeister K, Bhatti SFM, Hülsmeyer V, Boettcher IC, Tästensen C, Flegel T, Dietschi E, Leeb T, Matiasek K, Fischer A, Lohi H. Canine juvenile myoclonic epilepsy with photosensitivity caused by a defective Ras family GTPase DIRAS1. PNAS, 2017. doi: 10.1073/pnas.1614478114.

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.

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.

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

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

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.

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.

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.

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.

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.

Folkhälsan Research Foundation

Academy of Finland

Biocentrum Helsinki

Dog Health Research Fund, University of Helsinki

European Commission

European Research Council


ILS Doctoral Program

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

    • Tel:
      +358 50 319 9319

    • Contact
    • Marjo Hytönen

      PhD, Administrative Group Leader

    • Tel:
      +358 50 319 9322

    • Contact