Veltman

I have been fascinated by the possibilities of genomics technologies to explain 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 beginning of this millennium I pioneered microarray-based detection of submicroscopic chromosomal copy number variations in clinical genetics. My group was the first to identify a disease gene with this approach and the first to implement microarrays for diagnostic genome profiling in mental retardation. In the last 10 years I have been using mental retardation 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 I recently established next generation sequencing (NGS) technology. I have obtained several prestigious scientific grants; ZonMW VIDI, ZonMW equipment grant for NGS equipment, FP6 funded AnEUploidy, FP7 funded TECHGENE and GENCODYS. I am actively involved in the coordination of Medical Genome Sequencing efforts in Europe, recently funded through an FP7 coordinated action on standards in large-scale data gathering called GEUVADIS. The combination of fundamental research, technology development and clinical application in human genetics is to me both challenging and promising. My ultimate goal is to advance medical sciences by integrating our knowledge on the impact of genome variation in routine clinical decision making.

Joris Veltman is associate professor at the Department of Human Genetics and contact person for Medical Genome Sequencing projects.

• Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations in SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 42:483-5, 2010.

• Veltman JA, Brunner HG. Understanding variable expressivity in microdeletion syndromes. Nat Genet. 42:192-3, 2010.

• Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet. 18:3579-93.

• Webber C, Hehir-Kwa JY, Nguyen DQ, de Vries BB, Veltman JA, Ponting CP. Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet. 5:e1000531, 2009.

• Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E; Genetic Risk and Outcome in Psychosis (GROUP) Consortium, Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, Veltman JA. Recurrent CNVs disrupt 3 candidate genes in schizophrenia patients. Am J Hum Genet. 83:504-10, 2010.