Molecular genetics and biology of complex diseases - Juha Kere

Our group’s research focuses on the discovery of gene effects in complex human phenotypes, functional annotation of genes and characterization of gene networks in selected diseases. Three major projects involve the epigenetics and genetics of asthma and allergies (EpiGene project; Reinius & al. 2012, see selected publications), gene networks in dyslexia (Massinen & al. 2011, Tammimies & al. 2012), and human embryonal development from oocyte to implantation (unpublished). In addition, we have been characterizing the population structure of Sweden and Finland (Salmela & al. 2011).

Our group is interdisciplinary and includes members with solid background in genetics, biochemistry, molecular and cellular biology, biostatistics, bioinformatics, and model systems (mouse and zebrafish). We work in tight collaboration with clinical specialists and epidemiologists as well as leading experts on special methodologies, such as single-cell transcriptomics and brain imaging, and are involved in international consortia. We use modern genomics tools such as high-throughput sequencing for discovering gene variants and for gene expression profiling (RNAseq). We have tight collaboration with University of Helsinki where Prof. Kere visits part-time based on a specific contract. This group structure provides an excellent training environment for both post- and predoctoral scientists.

Methylation profiles

Differences in DNA methylation between different white blood cell types are large and have implications for whole-blood methylation analyses. Methylation profiles (as assayed by the Illumina 450K methylation arrays) from six donors cluster in principal component analysis by cell type rather than individual variation.

Group members

Andrea Bieder


I joined the Juha Kere group as a PhD student in 2012. My main research interest is studying the molecular mechanisms of the dyslexia candidate genes DYX1C1, DCDC2 and KIAA0319 and their involvement in cilia biology. Genetic studies have led to the identification of a number of dyslexia candidate genes. By performing functional studies we are aiming at understanding the molecular mechanisms of these genes and looking for common molecular pathways behind dyslexia. My favourite methods are immunohistochemistry and subsequent confocal imaging, quantitative PCR and protein biochemistry.

PhD student

Shruti Bhagat

Organizational unit: Kere

Ph.D., postdoc

Gayathri Chandrasekar


After graduating from Karolinska Institutet in 2011 with a PhD in Cell and Molecular Biology I joined Prof. Juha Kere’s group for my post doctoral studies. The major aim of my research is to understand and dissect the neurodevelopmental causes of complex neurological disorders such as dyslexia using zebrafish as the vertebrate model organism. I have a strong background in developmental biology and chemistry. My current research interests include functional genomics and chemical biology.

PhD, docent. Senior researcher

Elísabet Einarsdóttir


I have a Ph.D. in medical genetics and the title Associate professor (docent) since 2012. I am interested in the genetics underlying a variety of human diseases, and I find most phenotypes hard to resist. My speciality is mapping disease genes in large families.

A current list of my publications can be found at:

PhD, senior researcher

Hong Jiao


Hong Jiao got her Ph.D. in medical genetics in Karolinska Institutet. Her long time interest is genetic dissection of human complex diseases. Her current focuses are high throughput sequencing-based novel disease gene discovery and development of bioinformatics pipelines. In collaborations with clinical doctors they are currently hunting genes causing genetic disorders including obesity, hyperlipidemia, and scoliosis using whole genome sequencing and exome sequencing. The aim of their studies is to understand underlying mechanisms of disease developments, improve diagnoses, and ultimately for individualizing therapy based on sequence variation profiles. 

Phone: +46-8-52481151


PhD, Assistant Professor

Shintaro Katayama


I have interests in transcriptional regulation in human diseases and developments. In collaboration with biologists, geneticists, biochemists and other researchers in the team, I develop new analysis methods to interpret the genome-wide data appropriately on demand. We are using single-cell transcriptome sequencing methods, in parallel I am considering decomposition of the data from tissues/biopsies consist of heterogeneous cells.

Google Scholar :

MD, PhD, professor. Group leader

Juha Kere


Juha Kere (born 1958) is professor of molecular genetics at KI since 2001. He graduated with MD (1984), PhD in molecular genetics (1989) and specialist physician degree in clinical genetics (1994) from University of Helsinki. He was postdoctoral associate at Washington University in St.Louis, Missouri 1990-93 and became acting professor and chief physician of medical genetics at University of Helsinki and Helsinki University Central Hospital 1994. He was then founding director of the Finnish Genome Center 1998-2001, after which he moved to KI. He has published over 400 scientific original and review articles and supervised 35 completed doctoral thesis in Finland and Sweden.

PhD, postdoc

Kaarel Krjutskov


Kaarel Krjutskov is a postdoc and a Marie Curie fellow. He has more than ten years of experience with method development in DNA genotyping to modern RNA sequencing. His research interests are related to female reproductive biology in medical- and basic research level for studying molecular mechanisms behind diseases and identifying novel diagnostic biomarkers.

PhD, senior researcher

Tiina Skoog


Tiina is a molecular biologists with a PhD in medical sciences from Karolinska Institutet. After her PhD she has primarily worked with functional studies studying key genes involved in atherosclerosis and skin diseases. Currently she is also lab manager and coordinator of external NGS collaborations in prof. Kere's research group. Her main interests are candidate gene studies within psoriasis and dyslipidemia.

BSc/BEcons - PhD student

Debora Sugiaman-Trapman


My PhD education started in 2013 as a collaboration between Juha Kere and Peter Swoboda groups. My main project is the characterization of human RFX transcription factor (TF) family by regulatory and target gene analysis. My primary interest is in the role of the RFX TFs in neuronal cilia and in the human brain. For more information, please visit


Masahito Yoshihara

Organizational unit: Kere