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Edwin Cuppen

Prof. Dr. Edwin Cuppen

Genome Biology, Hubrecht Institute /
Human Genetics, University Medical Centre Utrecht
Group size: 25

1. What is the leading research theme in your group?
"By reading out the DNA sequence, we aim to better understand diseases so that we can better tune the treatment to a patient's individual condition. More specifically, we approach this from two angles. The first concerns the technical side of using Next Generation Sequencing. Data collection, analysis, interpretation and determining what the relevant variations are among the millions of variations you are confronted with. This is the bioinformatics part of our work. The second part focuses on the functional and structural analysis. We are not only interested in SNPs, but also in the effects of structural variations, such as parts of the genome being deleted, copied or inverted. The ultimate goal is to find out how genetic variation is linked to disease, in particular to rare genetic diseases and cancer."

2. With what type of groups or organisations do you collaborate most and why?
"Our work spans applied bioinformatics, experimental biology, clinical biology and algorithm development. Our collaborations are also very diverse. We collaborate with bioinformatics groups, systems biology groups, geneticists and oncologists working in the clinic, structural biologists like Gert Vriend in Nijmegen and other technology centres, like the Netherlands Proteomics Centre."

3. From your research perspective, what are the main challenges in bioinformatics right now?
"We need to get a really multidisciplinary approach off the ground. If we manage to bring all the different fields together, I see a lot of opportunities for making progress."

4. What is the most important task of a group leader?
"To be able to recognize the opportunities of the day after tomorrow and to translate those into a clear vision and strategy. In my opinion, bioinformaticians are too often swayed by the issues of the day."

5. How would you describe the atmosphere in your group?
"Enthusiastic and eager young people who love challenges and want to be ahead of the game. Sometimes, they are up to their necks in projects, but they always come up with a solution."

Text by Esther Thole.