Genomic Diseases

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 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. 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 was the first to identify dominant disease gene mutations using whole exome sequencing and recently provided strong experimental evidence for a de novo paradigm in intellectual disabillity.

The research of the genomic disorders group focuses on genomic architecture and genomic disease, with a particular interest in the role of rare de novo mutations and structural variations in severe neurodevelopmental and prenatally lethal disease. Veltman is also actively involved in the implementation next generation sequencing approaches in routine clinical diagnosis. His ultimate goal is to advance medical sciences by integrating our knowledge on the impact of genome variation in routine clinical decision-making.

Key publications

Key Projects