Kaisa Kettunen

Dr. Kettunen is a geneticist currently working as a Senior Researcher in the research group Saarela in FIMM. Her work includes genetic diagnostics by use of exome sequencing (including analysis, interpretation of results and reporting) in primary immune deficiencies, hematological malignancies and other rare disorders. In addition, she participates in various developmental tasks involving next generation sequencing. She joined FIMM in 2013 and was the two first years working in in the core Genotyping Unit of FIMM Technology Centre, taking care of customer projects, including project planning, project management, quality control and data analysis. Her expertise areas are next generation sequencing (NGS) analysis and interpretation, targeted next generation sequencing panels and various other genotyping platforms including Illumina GWAS genotyping, targeted genotyping by Agena massARRAY, cell line authentication and other applications of microsatellite analysis, targeted SNP genotyping by end-point PCR by Roche LightCycler, targeted methylation analysis by Agilent EpiTYPER and genome wide methylation analysis by Illumina methylation microchips. In FIMM she has also worked as a specialist in genetics in the Digital Health Revolution –project. She has a background of human genetics from both research and clinical laboratories. She did her thesis in 2007 about the genetic background of morbid obesity. Her post-doc project involved characterization of a knock-out mouse model for Mulibrey nanism, a monogenic multi-organ syndrome belonging to the Finnish disease heritage.

Selected publications

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. Kettunen KM, Karikoski R, Hämäläinen RH, Toivonen TT, Antonenkov VD, Kulesskaya N, Voikar V, Hölttä-Vuori M, Ikonen E, Sainio K, Jalanko A, Karlberg S, Karlberg N, Lipsanen-Nyman M, Toppari J, Jauhiainen M, Hiltunen JK, Jalanko H, Lehesjoki AE. Biol Open. 2016 Apr 3.

Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. Häggblom J, Kettunen K, Karjalainen J, Heliövaara M, Jousilahti P, Saarelainen S. Eur Clin Respir J. 2015 Sep 24;2:28829.

TRIM37 and Mulibrey nanism. Kettunen, K. M., Karlberg, S., Karlberg, N., Lipsanen-Nyman, M. & Lehesjoki, A-E. 2015 Inborn errors of development: the molecular basis of clinical disorders of morphogenesis. Epstein, C. J., Ericson, R. P. & Wynshaw-Boris, A. (eds.). 3. p. ed. New York: Oxford University Press, (Oxford monographs on medical genetics series).

Internal links

External links

Kaisa Kettunen
+358 50 448 9187

Job title

Senior Researcher

Areas of expertise

Next generation sequencing
Project and data management
Quality control
Monogenic diseases
Complex diseases
Knock-out mouse models

Started at FIMM



M.Sc. (Genetics), University of Helsinki, Faculty of Science, 2001
Ph.D. University of Helsinki, Faculty of Medicine, 2008
Last updated: 17.05.2016 - 14:59