Institute of Genetic Medicine

Staff Profile

Professor Joris Veltman



Director of the Institute of Genetic Medicine

Jacobson chair of Personalized Medicine
Royal Society Wolfson Research Merit Award Holder
Honorary Clinical Scientist, North East and North Cumbria NHS Genomics Medicine Centre (2018-2020).

Areas of expertise

  • Genomics technology
  • Male infertility genetics
  • Translational genomics
  • Personalised medicine

Major Grants

  • Wellcome Trust Investigator Award in Science (2017).

  • Australian National Health and Medical Research Council (2016, dr. M. O’Bryan principal applicant).

  • VICI grant, Netherlands Organization for Scientific Research (2015).

  • Equipment grant for supercomputer and ICT infrastructure, Province of Gelderland (2014).    

  • TOP-grant, Netherlands Organisation for Health Research and Development (2012, dr. B. de Vries principal applicant).

  • Translational research grant, Netherlands Organisation for Health Research and Development (2012).

  • ERC starting grant (consolidator category), EU 7th frame work project (2011).

  • NGI Booster grant; Netherlands Consortium for Personalized Genome Diagnostics (2011, prof.dr. E. Cuppen principal applicant).

  • GEUVADIS, EU 7th frame work project (2010, dr. X. Estivill principal applicant).

  • NWO equipment grant (2008)

  • TECHGENE, EU 7th frame work project (2008, dr. H. Scheffer principal applicant).

  • AnEUploidy, EU 6th frame work project (2006, prof. S. Antonarakis principal applicant)

  • VIDI grant, Netherlands Organization for Scientific Research (2005)


  • Royal Society Wolfson Research Merit Award (2017)

  • King Faisal International Prize for Medicine (co-winner with Han Brunner, 2016).

  • Pearl project award, Netherlands Organisation for Health Research and Development (2013).

  • Radboud Science Award, Radboud University Nijmegen (together with Han Brunner, 2011).

  • “Isabella Oberlé Award”, European Human Genetics Conference, Birmingham, United Kingdom (2003).

  • Award for best oral presentation, 7th European Workshop on Cytogenetics and Molecular Genetics of Human Solid Tumours, Edinburgh, United Kingdom (2000).

International activities

  • Member Wellcome Trust Genetics, Genomics and Population Research Expert Review Group (2018).

  • Member Scientific Advisory Board of NorSeq, national research infrastructure for sequencing in Norway (2017).

  • Scientific Advisory Board, genomics programme, UK Epilepsy Society (2017).

  • Member evaluation panel France Genomic Medicine Plan 2025 (2017).

  • International advisory committee, Psychiatric Genomics Consortium, National Institute for Mental Health PGC3 grant (2016-2018).

  • Committee member, NHS rare disease transition working group (2017).

  • Founder, International Male Infertility Genomics Consortium, together with dr. O’Bryan, dr. McLachlan, dr. Conrad and dr. Aston (2016).

  • Member Horizon 2020 ERC Starting Grants, life sciences panel (2014, 2016).

  • Member Scientific Evaluation Committee of the E-Rare joint transnational call 2015 (2015).

  • Chair (2016-present) and Member (2011-2015) of the Scientific Program Committee for the annual meeting of the European Society of Human Genetics.

  • Director Next Generation Sequencing course, European Society of Human Genetics in partnership with the European School of Genetic Medicine, Bologna, Italy (2011, 2013-2016).

  • Chair Research Oversight Committee, Genome Canada project on Personalized Medicine and Genomics project in Epilepsy, by prof. Cossette (2013-present).

  • Member Annual Review Committee, Simons Foundation Autism Research Initiative, New York, USA (2014).

  • Member review committee, research council health, Academy of Finland, Helsinki, Finland (2014,2015).

  • Faculty member "Medical Genetics course", European School of Genetic Medicine, Bologna, Italy (2005, 2010-2015).

  • Member International Review Committee, Institute Imagine, Necker Hospital, Paris, France (2013).

  • Member College of Reviewers, Genome Canada's 2012 large-scale applied research project competition in genomics and personalized health ($135M), Canada (2012).

  • Member Scientific Council of CAGI (Critical Assessment of Genome Interpretation), (2011-present).

  • Member Scientific Steering Committee GEUVADIS, a European Initiative for Medical Genome Sequencing (2008-2014).

  • Member review committee National French Call for Research on Rare Diseases (2007).

  • Member International Science Review Committee, Genome Canada, Canada (2006).

  • Member scientific committee Marie-Curie conference course on array CGH and molecular cytogenetics (2004-2006).

  • Reviewer for the Wellcome Trust, the National Health Services, Oxford Biomedical Research Centre, Genome Canada, French National Research Agency, Health Research Council New Zealand as well as for many international scientific journals (2003-present).

Editorial boards

  • Member editorial board “Genes”, Europe PMC open access journal (2018).

  • Member editorial board “OBM Genetics”, Open BioMedical Publishing, open access journal (2017-now).

  • Member editorial board “Clinical Genetics”, John Wiley and Sons (2016-now).

  • Guest editor, special issue of “Genome Medicine” entitled “Diagnostic genomics”, together with prof. J. Lupski (2015).

  • Associate editor "American Journal of Human Genetics", Cell Press (2015-2017).

  • Member editorial board "Genome Medicine", BioMed Central open access journal (2013-now),

  • Member editorial board "Medical Genetics and Genome Medicine", John Wiley and Sons, open access journal (2012-now).

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How is it possible that severe early-onset disorders are mostly genetic in origin, even though the disorders are not inherited because of their effect on fitness? Our research using state-of-the-art genomics approaches in patient-parent trios have recently indicated that most of these disorders are caused by de novo germline mutations, arising mostly in the paternal lineage.   

My research has contributed significantly to the understanding of mutational mechanisms underlying severe genetic disorders and to the implementation of genomics approaches in medicine. Early on in my career, my research using genomic microarrays enhanced our understanding of structural genomic variation and its role in intellectual disability and rare syndromes. Following this success we were the first in the world to implement genomic microarrays in diagnostics. More recently, our research using both exome and genome sequencing has provided strong experimental evidence for a de novo paradigm in severe early-onset disorders. We could show that de novo germline mutations, detected by comparing exomes or genomes of patients to that of their unaffected parents, are the major cause of severe intellectual disability. Following this success we implemented exome sequencing in diagnostics in 2011. Last year, diagnostic exome sequencing was performed in more than 5000 patients in Nijmegen. Currently, we are performing clinical utility studies to determine whether we should replace this by genome sequencing. Application of this ultimate genetic test in our research allowed us to start understanding mutational processes and establish links between the occurrence and frequency of these mutations and risk factors. Most notably, work by others and us has clearly demonstrated that advanced paternal age is a risk factor for severe genetic disorders in the offspring.

Since our first publication on the detection of de novo mutations in intellectual disability in 2010, I have focused my research on further understanding the frequency, generation, risk factors and role of these de novo mutations in genetic disease. Specifically, my group and I have moved from studying de novo mutations in the coding region to studying the entire genome. This has provided insight into the presence and role of the different types of de novo mutations in the genome of patients with intellectual disability, from single point mutations to structural rearrangements. Also, we obtained insight into the paternal origin of de novo germline mutations and identified parent-of-origin-specific mutation signatures becoming more pronounced with increased parental age, pointing to different mutational mechanisms in spermatogenesis and oogenesis. Furthermore, we optimized and applied highly sensitive single molecule Molecular Inversion Probe (smMIP) technology to distinguish germline from somatic de novo mutations. This allowed us to demonstrate that an important fraction of de novo mutations presumed to be germline in fact occurred either post-zygotically in the offspring or were inherited from a low-level mosaicism in one of the parents. In the last 2 years I have started to focus my research on the role of de novo mutations in male infertility. For this I have established local, national and international collaborations, obtained informed consent, collected patient samples and hired personnel. We have started the first pilot studies by performing targeted smMIP approaches in 1000 men with unexplained male infertility. In addition, we have started RNA sequencing pilot studies in germ cell populations from FACS sorted testis biopsies of fertile and infertile men.