Professor Joris Veltman

Director of the Institute of Genetic Medicine, Newcastle University

The research of Prof. Veltman has contributed significantly to unravelling the genetic causes of rare disease, to our understanding of mutational mechanisms underlying genetic disorders and to the implementation of genomics approaches in medicine. In 2000 he used genomic microarrays for the first time for studying structural genomic variation in medical genetics. Subsequently, he and his colleagues pioneered the implementation of genomic microarrays and later exome sequencing in diagnostics in Nijmegen, The Netherlands.

His research has revealed the genetic cause for more than 50 clinical syndromes and provided strong experimental evidence for a de novo paradigm in severe early-onset disorders. Since he first showed a role for de novo mutations in intellectual disability in 2010, he has focused his research on understanding the frequency, generation, risk factors and role of these de novo mutations in genetic disease. In 2016, Prof. Veltman and Prof. Brunner were awarded the King Faisal International Prize for Medicine for their work on the introduction of Next Generation Sequencing in medicine. In 2017, Prof. Veltman was appointed Director of the Institute of Genetic Medicine at Newcastle University. Here, he studies the role of de novo mutations in male infertility, for which he was awarded a Wellcome Trust investigator award in 2018. Prof. Veltman chairs the Scientific Programme Committee for the European Society of Human Genetics.

Genomics Medicine Ireland