VELTMAN Joris A.
Professor in Translational Genomics
Head of genome research division, department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands & department of clinical genetics, Maastricht University Medical Center, Maastricht, The Netherlands
Joris Veltman is a molecular geneticist who has been instrumental in the set-up, application and implementation of genomics approaches in medical genetics. He developed and then experimentally validated the hypothesis that a major part of intellectual disability should be due to de novo gene mutations, given the severity, early-onset and genetic heterogeneity of ID. For this prof. Veltman uses genomic microarrays, exome and genome sequencing approaches. This de novo paradigm has now been widely validated in other neurocognitive phenotypes, autism, epileptic encephalopathies, and schizophrenia, and represents one of the recent major breakthroughs in human genetics.
References: Gilissen et al. Genome sequencing identifies major causes of severe intellectual disability. Nature (2014). de Ligt et al. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability. New England Journal of Medicine (2012). Vissers et al. A de novo paradigm for mental retardation. Nature Genetics (2010). Hoischen et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics (2010). Vissers et al. Mutations in a novel member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics (2004).