Dr. Bobby Koeleman is Group Leader at the department of Genetics within the Center for Molecular Medicine at the University Medical Center Utrecht since 2001. He is an expert in genetics, dedicated to find genetic causes of both common and rare genetic disease, and subsequently aims to translate the genetic finding to clinical relevance. He received a NWO VIDI grant in 2010, and support by various grants from the Dutch Diabetes Foundation, Dutch Hart Foundation, Dutch Epilepsy Foundation, Dutch Arthritis Foundation, Zon-MW NWO, and EU Fp6, Fp7, and ESF programs.
We focus on the genetic causes of Autoimmune diseases and epilepsy. An important aim of our studies is to translate genetic findings to clinical relevance. We perform genetic research of common epilepsy through Genome-Wide Association Studies (GWAS) and pharmacogenetic studies. We have coordinated analysis of the first GWAS in common epilepsies that showed that SCN1A is the major susceptibility locus for both focal and generalized epilepsy. Large patients cohorts are at the hart of these studies and we are collaborating with the Epilepsy Expert center SEIN to establish the largest epilepsy cohort in The Netherlands.
We further are dedicated to find the monogenic causes of severe childhood epilepsy. Through Next Generation Sequencing studies we have contributed to the discovery of several new epilepsy genes, including HCN1, STX1B, CHD2, and DNM1. We are particularly interested to improve diagnosis and treatment, and find new treatment modalities for these rare genetic epilepsies, through detailed geno-phenotype and functional studies.
Finally, we are performing translational studies in Type 1 Diabetes together with the LUMC in a Dutch network that is particular interested in post-translation modification as a source of novel disease determinants and biomarkers.