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Research Fellows Directory

Joris Veltman

Professor Joris Veltman

Research Fellow

Organisation

Newcastle University

Research summary

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.

Interests and expertise (Subject groups)

Grants awarded

De novo mutations – from discovery to biology and medicine

Scheme: Wolfson Research Merit Awards

Dates: May 2017 - Apr 2022

Value: £75,000

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