Joris Veltman, Dean of the Newcastle University Biosciences Institute, has made ground-breaking contributions to our understanding of biology and genetics through the inventive use of genomics. He has been a major leader in the study of severe congenital diseases, particularly intellectual disability, caused by de novo mutations. Exploring families with these “genetic lethal” conditions has provided insight into mutational mechanisms and frequencies. The gene identities reveal pathways required for brain development and suggest possible approaches to therapeutic interventions. This work is seminal for our understanding of cognitive development. A major new program focuses on uncovering de novo mutations leading to male infertility, partly through collaboration within the International Male Infertility Genomics Consortium.