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KajaMadsen

I graduated from University of Southern Denmark with a master’s degree in Biomedicine. For long, genetics has fascinated me as the blueprint of life. Untangling the biology to understand the blueprints of life has led to my strong passion for the mechanistic understanding of enhancers. During my bachelor project and my master thesis I was working in the laboratory of Professor Susanne Mandrup, University of Southern Denmark, with unraveling the mechanistic function of enhancers, and how enhancers can work together to orchestra gene expression. I am very excited about my ENHPATHY fellowship, because it gives me the opportunity to further investigate enhancers, and to connect with fellow researchers with the same interest for gene regulation. When I am not occupied investigating enhancers, I love to travel and see new places or enjoy the nature from the back of my horse.

My research project

Computational approaches to discover noncoding mutations underlying human disease (WP3)

Human genetics is rapidly moving from the analysis of protein-coding sequences to whole genome sequences. Our ability to discern non-protein coding mutations that cause disease from a vast excess of non-functional mutations is still limited. This PhD project will focus on an ERC-funded large-scale enhancer mutation screen in patients with monogenic diabetes. It will develop computational approaches to inform on the pathogenicity and function of enhancer mutations, using data from ongoing experimental and patient screens.

Applicants with diverse educational backgrounds are welcome, but a computing background is important, including basic knowledge of a programming language (e.g Python, R). Expertise in statistical analysis is also highly relevant.

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My publications