The Finnish disease heritage contains almost forty monogenic, rare hereditary diseases that are clearly enriched in Finland. FinnDisMice research consortium focuses on modeling a set of Finnish disease heritage in mouse in order to facilitate understanding of disease pathomechanisms that are causative for these rare diseases. As part of the FinnDisMice research consortium we are committed to utilize CRISPR/Cas9 genome editing to generate disease models for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), Gyrate atrophy of choroid and retina (HOGA) and Cartilage-hair hypoplasia (CHH). The special phenotyping focus of our group is CHH, a disease manifested by growth disorder and defective immune system.
PIs: Petra Sipilä, PhD, adjunct professor
Members involved
Senior researchers: Marika Karikoski PhD; Guillermo Martinez-Nieto, PhD
Graduate student: Inka Raimoranta
Technicians: Jenni Airaksinen
Selected publications about research
Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, Laine M, Lapatto R, Myllynen P, Niinikoski H, Rahikkala E, Suomalainen A, Tikkanen R, Tyynismaa H, Vieira P, Zarybnicky T, Sipilä P, Kuure S, Hinttala R. The Finnish genetic heritage in 2022: from diagnosis to translational research. Disease Models & Mechanisms, in press
Zárybnický T, Heikkinen A, Kangas SM, Karikoski M, Martínez-Nieto GA, Salo MH, Uusimaa J, Vuolteenaho R, Hinttala R, Sipilä P, Kuure S. Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage. Cells 2021, 10, 3158. https://doi.org/10.3390/cells10113158