Professor van der Spek is the head of the clinical bioinformatics team of ErasmusMC. As a geneticist/bioinformatician he coordinates multiple EU and Dutch research projects in the Erasmus  MC department of pathology. Van der Spek published in 1996 together with Akira Yasui the first human photolyase with similarity to plant blue light receptors, after he identified the gene online using a sequence comparison program in the draft of human genome project.

As a bioinformatician he and his team integrates and analyzes mutations and multi-Omics data to study genotype-phenotype correlations in health and disease. His work has a strong focus on how the genome contributes to various biological pathways and processes including circadian rhythm.