Joris Veltman Ph.D. Full Professor

Professor Translational Genomics



General Information

Street / P.O. BoxGeert Grooteplein 10, 855
Zip code6525 GA
CityNijmegen
CountryThe Netherlands
E-MailJoris.Veltman@radboudumc.nl
Phone number(s)+31 (0)24 3614941
Fax+31 (0)24 3668752
Website(s)www.genomicdisorders.nl

More Information

I have been fascinated by the possibilities of genomics technologies to study the causes of human disease ever since these technologies became available. For this purpose I have built a multidisciplinary research group with expertise in genome technology, molecular biology, computational science and clinical genetics. In the last 5 years I have 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 as a model disease. In 2010 my group was the first to use this approach to successfully identify dominant de novo disease gene mutations causing rare intellectual disability syndromes. Next, we pioneered approaches in which variation in all genes of the patient is compared to that of his or her unaffected parents (trio-based exome sequencing). This allowed us to reliable identify de novo mutations in these genes and demonstrated that these explain a significant percentage of patients with severe intellectual disability. With this we provided strong experimental evidence for a de novo paradigm in intellectual disability. Following this success we implemented exome sequencing in diagnostics.

In our research we recently performed a first pilot study in which we studied de novo mutations in the entire genome using state-of-the-art genome sequencing technology. We demonstrated for the first time that genome sequencing can identify the major causes of severe intellectual disability, with de novo coding mutations explaining disease in 60% of cases. Application of this ultimate genetic test in our research allows us for the first time to really start understanding 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. It is my ambition as professor in translational genomics also to implement this genetic test as soon as possible into routine diagnostics, albeit in a responsible manner. The importance of my research has been recognized over the years by personal grants and awards from the Dutch Scientific Organization (ZonMW VIDI grant and VICI grant & Pearl project award), and the European Union (ERC starting grant, consolidator category), as well as by invitations to speak at prestigious international scientific conferences such as the American Society of Human Genetics, the Human Genome Meeting and the Nobel Symposium. In 2016, Han Brunner and I have been awarded the King Faisal International Prize for Medicine. The prize was awarded in recognition of our groundbreaking work on the introduction of Next Generation Sequencing in clinical medicine, specifically for the diagnosis of rare diseases

Projects Involved

Causes and consequences of de novo mutations in intellectual disability and male infertility

DENOVO: Detection and interpretation of de novo mutations and structural genomic variations in mental retardation

Centre for Genome Diagnostics: Next-generation sequencing-based diagnostics as a routine clinical decision making tool in health care

A novel strategy for the large scale identification of unknown PCLD genes

Functional mapping of whole-exome data in metabolic disease



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