Josephine Dorsman – Principal investigator
The focus of the group is on disorders associated with a genetic predisposition to cancer, particularly retinoblastoma (Rb) and Fanconi anemia (FA). Affected individuals carry mutations in genes functioning in the FA/BRCA pathway or the RB1 network, respectively. We take a bench-to-bedside approach: important questions arising in the clinic are addressed in the lab and vice versa. In the lab state-of-the-art genomics approaches, including RNA and DNA sequencing and CRISPR-based methods, are used with the ultimate aim to improve the care of affected individuals. Since the FA/BRCA and the RB1 tumor suppressor pathway are affected in many childhood and adult tumors, the proposed studies are expected to have a broad significance.
In addition, we have a research line inspired by the properties of cells of FA patients: an extreme sensitivity towards oxidative stress. This type of stress has been shown to be linked to a variety of age-related degenerative processes. In the framework of this project, we aim to identify novel genes involved in oxygen tolerance.
Highlights of the lab included the discovery of i) FA genes, ii) a novel type of Rb, and iii) a new human network giving rise to oxygen tolerance. Special attention is now also on the development of new non-invasive protocols for early detection or stratification of heritable tumors.