Joris Veltman has been fascinated by the possibilities of genomics technologies to explain the causes of human disease ever since these technologies became available. For this purpose he has built a multidisciplinary research group at the department of Human Genetics, Radboud University Medical Centre in Nijmegen, with expertise in genome technology, molecular biology, computational science and clinical genetics. His group was the first to identify a disease gene using genomic microarrays and the first to implement these microarrays for diagnostic genome profiling in intellectual disability. Before Veltman became professor in Translational Genomics at UMC St Radboud in Nijmegen he has been a postdoctoral fellow at the University of California in San Francisco. He studied molecular science in Wageningen and obtained his PhD at Maastricht University.
In the last 10 years his group has been using intellectual disability as a model disease to learn the basic concept of genotype-phenotype correlations. To study the impact of all forms of genomic variation on human disease Veltman established NGS technology and identified dominant disease gene mutations using whole exome sequencing and recently provided strong experimental evidence for a de novo paradigm in intellectual disability.
Next generation sequencing approaches like exome and genome sequencing also have a very high potential for use in a diagnostic setting to establish a genetic diagnosis, especially for those diseases where the current diagnostic yield is low due to the genetic heterogeneity. The analysis and interpretation of exome data in a diagnostic setting however has some specific unresolved challenges with respect to quality control, minimizing the possibility of incidental findings, and allowing for easy and flexible interpretation of exome and genome sequencing data for diagnosing patients. Veltman and his group have developed methods for reliably detecting and interpreting de novo germline mutations associated to sporadic diseases such as severe intellectual disability. In addition they have developed a software solution that facilitates the interpretation of exome sequencing data in a diagnostic setting. Results can be interrogated using a diagnostic-oriented user interface that automatically limits genetic findings to the relevant genomic loci for a disease, and allows further interpretation using predefined filters or filter schemes. In this presentation he will present results that were obtained in our diagnostic lab of analyzing the exomes of patients affected by intellectual disability, blindness, deafness, ataxias, metabolic disorders or hereditary cancer. In addition, he will discuss further developments in this field and its impact on clinical decision making, now and in the future.
Joris Veltman, Radboudumc