Genetics of gene regulation in disease

Research group

Transcription factors regulate their target genes not only upon specific stimuli, but also through binding to specific DNA sequences. Genetic variation that occurs on those binding sequences may disturb target gene expression. It is also a potential source for the “missing variation” in polygenic diseases that have a clear genetic component in their etiology, such as type 2 diabetes or Alzheimer's disease.


Institute of Biomedicine, School of Medicine, Faculty of Health Sciences

We focus on the identification and molecular characterization of human genetic variation that alters the gene regulatory capacity of transcription factors and contributes to diseases with identified genetic component like type 2 diabetes or Alzheimer’s disease. Our research on the metabolic front utilizes a combination of mouse genetics and detailed genome-wide mapping of e.g. gene expression and chromatin activities at tissue and single-cell levels, with an aim to extrapolate the main findings to human metabolic genetics through conserved metabolic regulatory cascades. For neurodegenerative diseases we collaborate widely with the research teams of the UEF Neuro RC.

The identification and mechanistic characterization of new, truly causal human genetic variants in complex diseases offer tools for improved disease prediction, subtyping and personalized medicine solutions.


Academy of Finland, Finnish Diabetes Research Foundation, University of Eastern Finland

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