Prof. dr. Ing. Peter van der Spek

Professor of Clinical Bioinformatics of the department of Pathology at the Erasmus University Medical Center Rotterdam

Prof. dr. Ing. Peter J. van der Spek is a molecular geneticist at the department of Pathology & Clinical Bioinformatics of the Erasmus University Medical Center, Erasmus MC, Rotterdam, The Netherlands. He began his training in Human Genetics in 1989 at the Erasmus MC Rotterdam and graduated in 1996. Van der Spek explored the Human Genome for candidate drug targets, for pharmaceutical companies such as Akzo-Nobel/Organon and Johnson & Johnson/Janssen Pharmaceutica. In 2003 Peter J. van der Spek was appointed as full professor and head of the department of Bioinformatics at the Erasmus University Rotterdam.

His fundamental, epidemiologic and diagnostic research focuses on five main areas:

1) Cancer predisposition genes with a special interest in DNA repair pathways

2) Cardiovascular relevant genetic mutations such as channelopathies.

3) Neurological development and genetic neuro-degenerative diseases characterized by chronic fatigue (ME/CFS) linked to mitochondrial DNA

4) Genetics of auto-immune and auto-inflammatory disorders with a focus on genetic primary immune deficiencies such as SCID.

5) Last but not least, rare pediatric genetic disorders (including PANS and PANDAS) with unknown causal molecular mutations are studied by applying state of the art Next Generation Sequencing technologies and OMICS techniques.

Professor van der Spek has published many original papers on these topics. His bioinformatics expertise has opened the door towards understanding of the molecular pathways relevant to diagnose and develop therapeutic solutions to treat those diseases. He is closely involved in the development of innovative translational molecular personalized medicine strategies in many international projects.