Our research focuses on various skeletal developmental disorders, such as osteogenesis imperfecta, chondrodysplasia, craniomandibular osteopathy, and Van den Ende–Gupta syndrome, and we have identified several gene mutations associated with these conditions. Research on osteogenesis imperfecta is still ongoing. We also study various joint growth disorders, such as shoulder osteochondrosis.
How to Participate
We are currently welcoming samples for genetic research on osteogenesis imperfecta in Finnish Lapphunds and on shoulder osteochondrosis in dogs.
We often also have other ongoing breed-specific studies. From here you can check, you can see if we currently have an ongoing breed-specific study for your dog’s breed.
1. Send us a blood sample from your dog. Instructions for sample collection can be found here.
2. Send any additional information and attachments by email. These may include, for example, any veterinary visit records, digital X-rays, and pathology reports. Send the attachments to lgl-kyselyt@helsinki.fi
3. We also encourage you to fill in the Dog Personality and Behaviour questionnaire. Pääset vastaamaan kyselyyn tämän linkin kautta. This allows your dog’s sample to also be used in behavior genetics projects, and information about behavior can help better understand the background of the diseases being studied.
We also welcome samples from healthy close relatives of affected dogs (such as parents, siblings, or offspring.)
Contact Persons
Marjo Hytönen, Co-PI: marjo.hytonen@helsinki.fi
Tiina Harmas, doctoral researcher: tiina.heinonen@helsinki.fi
Osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder in which bones are fragile, leading to recurrent fractures. In Finnish Lapphunds, a severe recessively inherited form of the disease occurs, with bone fractures visible immediately after birth. The condition causes intense pain in puppies, and no curative treatment is available. Our goal is to identify the gene mutation causing the disease, which would allow its prevalence to be managed through genetic testing.
Shoulder Osteochondrosis
Olkanivelen osteokondroosi (OC) on kasvuhäiriö, joka johtuu olkanivelen ruston alaisen luutumisen häiriöstä. Se voi aiheuttaa ontumista, kipua ja nivelen turvotusta. Oireet alkavat tyypillisesti 4–7 kuukauden iässä. Osteocondrosis dissecansissa (OCD) voidaan havaita myös irronnut rustopala. Osteokondroosi on monitekijäinen sairaus, jonka syntyyn vaikuttavat sekä perinnölliset että ympäristötekijät. Tutkimme osteokondroosin geneettistä taustaa erityisesti bordercollieilla, mutta otamme vastaan näytteitä kaikenrotuisista koirista, joiden olkanivelet on kuvattu. Lisätietoa tutkimuksesta löydät tämän linkin kautta.
Results
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. 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, Lohi H. PLoS Genet. 2016 May 17;12(5):e1006037.