Areas of expertise

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 currently uses genetic results to guide functional studies that are aimed at finding novel treatment modalities for both epilepsy and Type 1 Diabetes. His work is supported by a NWO VIDI grant in 2010, and 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. His research has been published in > 200 publications, in Nature Genetics, Brain, Lancet Neurology and Human Molecular Genetics.

Research program / group

We focus on the genetic causes of Auto-immune 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 coordinate the ongoing GWAS of common epilepsies that showed in 2014 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.

Group members

  • Annabel Vreeker, postdoc
  • Anja Sonsma, research nurse
  • Martijn Koetsier, technician
  • Ruben van ‘t Slot, technician
  • Sakshi Singh, postdoc
  • Wout Weuring, PhD student

Key publications

  • Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BPC, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015;138(Pt 11):3238-50.
  • Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Boerma RS, Braun KP, van de Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BPC. Neurotherapeutics. 2015 Epub
  • CHD2 variants are a risk factor for photosensitivity in epilepsy. Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BPC*, Mefford HC*, Scheffer IE*, Sisodiya SM*. Brain. 2015 ;138:1198-207. (* shared last author)
  • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. International League Against Epilepsy Consortium on Complex Epilepsies. Lancet Neurol. 2014;13(9):893-903.
  • A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. Kuiper JJ, Van Setten J, Ripke S, Van 'T Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, De Kovel CG, Ten Dam-Van Loon N, Den Hollander AI, Huis in het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, De Bakker PI, Mutis T, Koeleman BPC. Hum Mol Genet. 2014 ;23(22):6081-7.


Link to full list of publications


More contact information

Visiting address
Stratenum room 1.305
Universiteitsweg 100
3584 CG Utrecht
The Netherlands

Monique van Schaick
+31 (0)88 75 68312

Detailed CV