CRH Seminar: Professor Joris Veltman

Speaker: Professor Joris Veltman, Director, Institute of Genetics and Cancer

Host: Andrew Horne

Title: Genetics of reproductively lethal disorders

Short Bio: 
Professor Joris Veltman is a Dutch human geneticist, Chair of Reproductive Genomics and Director of the Institute of Genetics and Cancer at the University of Edinburgh. Prior to this, he was Director of the Institute of Genetic Medicine and Dean of the Biosciences Institute at Newcastle University, and before that he worked at the Department of Human Genetics, Radboud University, The Netherlands.

Joris 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. His research using both exome and genome sequencing provided strong experimental evidence for a de novo paradigm in severe early-onset disorders.

In Edinburgh, Joris is starting up a multidisciplinary research group with expertise in genome technology and bioinformatics, applied to reproductive disorders. The group is particularly focused on studying the role of de novo mutations and structural variation in severe forms of male infertility, using short and long-read sequencing in patient-parent trios. It aims to identify genes, non-coding regions and biological mechanisms involved in male infertility and consecutively develop genetic tests for implementation in routine diagnostics. These male infertility studies are done in close collaboration with fertility experts from the University of Edinburgh and NHS Lothian, UK fertility clinics and international collaborators. Joris has co-founded the International Male Infertility Genomics Consortium (IMIGC.org) and is actively involved in promoting research and diagnostics of reproductive disorders. In addition, his group supports the application of genomics approaches in rare disease more broadly, including the study of complex genomics regions, as well as the clinical implementation of genomics tests.

Joris is an active member of the European Society of Human Genetics, current chair of the ESHG Annual Meetings Committee, former chair of the ESHG Scientific Programme Committee and organiser of the ESHG Next Generation Sequencing course.

In 2016, Prof. Veltman and Brunner were awarded the King Faisal International Prize for Medicine for pioneering the clinical application of next generation genetics. In 2021 he was elected Fellow of the Academy of Medical Sciences, United Kingdom.