Chair of Department (Professor), Erasmus MC, Department of Clinical Genetics, Rotterdam, the Netherlands.
The research objectives of the group are the identification and characterization of genes and mutations in genes contributing to inherited diseases and to understand how these mutant genes contribute to disease development. Furthermore, we have a focus on the therapeutic possibilities for congenital disorders. The work in his group is focused on gastrointestinal disorders, more specific on Hirschsprung disease (HSCR) and Congenital Short Bowel Syndrome. The work performed includes all kind of molecular genetic techniques including micro-array analysis (both expression profiling and high density genotyping) deep sequencing and all kinds of functional genetic tests (both in vitro and in vivo) as well as the isolation, characterization and culturing of stem cell.
EDUCATION AND EXPERIENCE:
2013-2018: Honorary Professor of the Institute Of Child Health, University College London, UK
2012- present: Full Professor Human Genetics, Head of the Department of Clinical Genetics Erasmus Medical Centre, University of Rotterdam, Rotterdam, the Netherlands.
2005-2012: Full Professor Human Developmental Genetics, Head of Research, Department of Genetics, University Medical centre Groningen, University of Groningen, the Netherlands
2000-2005: Associate Professor, Department of Medical Genetics, University of Groningen, the Netherlands
1996-2000: Assistant Professor, Head of the DNA diagnostics laboratory, Department of Medical Genetics, University of Groningen, the Netherlands
2001-2006: PhD student Department of Medical Genetics, University of Groningen, the Netherlands
5 MAIN RECENT PUBLICATIONS:
- Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.(2016) Hum Mol Genet Epub ahead of print
- Young HM, Stamp LA, Hofstra RMW. Hirschsprung Disease and Activation of Hedgehog Signaling via GLI1-3 Mutations. (2015) Gastroenterology. 2015149(7):1672-1675
- van der Werf CS, Sribudiani Y, Verheij JB, Carroll M, O’Loughlin E, Chen CH, Brooks AS, Liszewski MK, Atkinson JP, Hofstra RM. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. (2013) Genet Med 15:310-313
- van der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, te Meerman GJ, van IJzendoorn SCD, Shepherd IT, Verheij JBGM, Hofstra RMW. Mutations in CLMP cause Congenital Short Bowel Syndrome, pointing to its major role in intestinal development. (2012) Gastroenterology 142:453-462
- Sribudiani Y, Metzger M, Osinga J, Rey A, Burns AJ, Thapar N & Hofstra RMW. Variants in RET associated with Hirschsprung disease affect binding of transcription factors and gene expression (2011) Gastroenterology 140:572-582