Joris Veltman

Director of the Institute of Genetic Medicine

Institute of Genetic Medicine, Newcastle University Newcastle upon Tyne

Director of the Institute of Genetic Medicine & Professor of Translational Genomics, International Center for Life, Newcastle University, Newcastle upon Tyne, United Kingdom (2-2017-present). Joint affiliation at the Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands (2013-present). In the last 8 y ears Dr. Veltman has been using next generation sequencing technology to improve the detection of all forms of genomic variation and study their role in human disease, using intellectual disability (ID) as a model disease. In 2010 his group was the first to use this approach to successfully identify dominant de novo disease gene mutations causing rare ID syndromes. Next, he and his team pioneered exome sequencing in patient-parent trios to reliable identify de novo disease gene mutations in common forms of ID. Following this success they implemented exome sequencing in routine diagnostics. In their research they recently performed a first pilot study in which they studied de novo mutations using state-of-the-art genome sequencing technology. Demonstrated for the first time that genome sequencing can identify the major causes of severe ID, with de novo coding mutations explaining disease in 60% of cases. This ultimate genetic test allows to study mutational processes, establish links between the occurrence and frequency of these mutations and risk factors such as paternal age, and start to look at disease causing mutations in the non-coding part of our genome. In the coming years Dr. Veltman w ants to expand his research on the role of de nova mutations to other disorders including male infertility and early-onset Alzheimer's disease. It is also his ambition as Professor in Translational Genomics to implement genome sequencing as soon as possible into routine diagnostics, albeit in a responsible manner. The combination of fundamental research, technology development and clinical application in human genetics to Dr. Veltman is both challenging and promising. His ultimate goal is to advance medical sciences by integrating his knowledge on the impact of genome variation in routine clinical decision making.