As one of the eight medical centres in the Netherlands, the LUMC has five core tasks: patient care, scientific research, education, study programmes and continuing education. LUMC research and training focuses on top clinical and highly specialised care and on the complex medical issues for which there are often no answers today. With patient care and research labs under one roof, patients, doctors and researchers collaborate to develop new treatment methods.
The department of Human Genetics is a broadly oriented research department with focus on the (epi)genomic contribution to inherited and acquired diseases. The department is led by prof.dr. Silvère van der Maarel. The bioinformatics research group, led by dr. Peter A.C. ’t Hoen, consists of around 20 bioinformaticians and works on new methods, pipelines and workflows for analysis and integration of next generation sequencing and other high-throughput data sets. There is a special focus on biosemantics, semantic web technologies and computer-assisted data interpretation and knowledge discovery. The bioinformatics research group also supports and trains biomedical scientists and biomedical students.
LUMC’s role in RD-Connect aims to develop biosemantic tools and web services to provide intuitive and real-time access to data and meta-data descriptions on patient and molecular phenotypes. Importantly, the semantic web approach will enable queries going beyond retrieval of explicit data, and will open the door to automated, statistical approaches to ‘inference’. LUMC will develop an integrated semantic and statistical framework for the identification and prioritisation of molecular biomarkers relevant to disease severity, disease progression, disease endophenotypes, response to therapy and adverse events. LUMC’s major asset is the searching ‘beyond the obvious’ and the discovery of implicitly present knowledge not yet archived in databases. LUMC will participate in WP2 (patient registries and databases), 3 (biomaterial sharing), 4 (bioinformatics, task leader), 5 (integrated platform) and 7 (impact, innovation and implementation).