We focus on the discovery of gene effects and networks in complex human phenotypes. Our major projects are dyslexia, early embryonic development, psoriasis, and rare immune deficiency diseases. There is a strong strategic and methodological synergy between them, even though the research subjects represent different physiological and organ systems.

Our research group was established 1994. We work in tight collaboration with clinical specialists as well as leading experts on special methods, such as single-cell transcriptomics and brain imaging, and are involved in international consortia. We use modern genomics tools such as high-throughput DNA and RNA sequencing for identifying gene variants and gene expression profiling, respectively, as well as epigenetics research techniques. In addition, our group has an interest in comparative studies between human and other species, such as dog.

We have identified several susceptibility genes, providing opportunities to study the pathogenetic mechanisms. Our major breakthrough provided a detailed transcriptome of early embryos (Töhönen et al. 2015), and now our focus is to identify the most critical factors regulating the early embryonic development. We have recently characterized two genes LEUTX and DPRX that may be the key factors in the embryonic development (Jouhilahti et al. 2016). In psoriasis, we showed that innate immunity related signaling pathways are active also in non-immune cells of psoriatic skin, and in dyslexia we are studying the relationship between a genetic background and brain activity. Our studies on immune deficiency disorders are focused to identify genes behind the new and rare types of diseases.  

Main Collaborators

Dyslexia consortium “DYSGEBRA”: Heikki Lyytinen, PhD, Professor, and Riitta Salmelin, DSc, Professor

Hannes Lohi, PhD, Professor 

Timo Otonkoski, MD, PhD, Professor

Mikko Seppänen, MD, PhD

Juha Tapanainen, MD, PhD, Professor