Genetics of gene regulation in disease
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 obesity.
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. Our research 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.
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.
We also collaborate widely with research groups who need bioinformatic expertise.
Academy of Finland, Diabetes Research Foundation
Group members - UEF
Sami Heikkinen Associate Professor , School of Medicine, Biomedicine
Mari Taipale Postdoctoral Researcher , School of Medicine, Biomedicine
Juho Mononen Early Stage Researcher , School of Medicine, Biomedicine