The Cuppen group is a translational research group that investigates the causes and consequences of genetic variation. Variation in DNA sequences can have a large impact on disease or disease susceptibility, for example resulting in congenital disease or cancer. In recent years new technologies have emerged that allow us to determine the complete DNA sequence of individuals. We are using the latest DNA sequencing technologies for studying the basis of specific human diseases. Interpretation of alterations at the single base letter and structural level in both protein-coding and regulatory domains is one of the main challenges that we address using systematic integrative experimental and computational approaches. Furthermore, we are studying the origin and mechanisms by which de novo genetic variation is induced.
Our research is performed in a highly collaborative fashion both within the group and with other research groups and clinical laboratories and researchers on a local, national and international level. These collaborations are important for translating fundamental knowledge into clinical practice and routine diagnostics.
Our main fundamental research questions are:
What are the mutation rates and processes in healthy cells in different tissues during the process of aging?
How do these mutations contribute to disease and aging and what are the mechanisms that protect normal cells from disfunctioning?
How do mutations contribute to tumor characteristics including response to treatment?
What are the causes of complex structural variation (SVs)
What are the consequences of complex SVs on genome/gene function in congenital disease