Human Genetics 3 - Molecular Technology and Informatics for Personalised Medicine and Health

Principal investigators
Prof.dr. Silvère M. van der Maarel, prof.dr. Johan T. den Dunnen, prof.dr. Peter de Knijff, prof.dr. Barend Mons, prof.dr. Marcel Tijsterman, dr. Lucia Daxinger, dr. Susan Kloet, dr. Jeroen F.J. Laros, dr. Marco Roos, dr. Ahmed Mahfouz

Aim and focus

This program aims to better understand genotype - phenotype relationships in humans and in disease models, and to predict predisposition to and progression of disease by means of bio-M.I.S. (molecular, informatic, and semantic) approaches. We see increasing opportunities for data-driven research. These extend beyond conventional research, diagnosis, screening and therapy methods, and include innovative -omics technologies (genomics, epigenomics, transcriptomics, proteomics and metabolomics), and bioinformatic and biosemantic analyses. We focus on the use of next-generation sequencing (NGS) technology followed by integrative semantic data analysis to unravel unsolved genetic diseases; to study the regulation of the genomic organisation and gene expression; to identify the genetic basis of genome instability, to understand genome evolution and population differentiation; and on the use of ‘In silico Knowledge Discovery’ tools to support the above strategies. 

For more details, see

LUMC Research Profiles: Translational Neuroscience; Innovation in Health Strategy and Quality of Care; Biomedical Imaging