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Robert Hofstra, PhD

Prof.dr. R.M.W. Hofstra Afbeelding
Chairman Dept. Clinical Genetics

Department of Clinical Genetics
Erasmus MC
Faculty Building, Ee2042A
Wytemaweg 80

3015 CN Rotterdam 

The Netherlands  

Email: r.hofstra@erasmusmc.nl
Tel: +31 (0) 10 7043382

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Study:
Biology at the University of Groningen

PhD thesis:
The RET gene and its associated diseases, University of Groningen, 1995

Inaugural lectures:

Afbeelding Genen en grenzen (oration book),
University of Groningen,
September 9, 2008



Afbeelding Grenzeloze genen (oration book) ,
Erasmus University, Rotterdam,
July 3, 2015



Keywords
Gastrointestinal (GI) tract, enteric nervous system, colon development, HSCR, Short Bowel Syndrome, colon cancer, functional genetics

CV
Robert Hofstra studied biology and received a PhD in the medical faculty at the University of Groningen in 1995 for his studies on the involvement of the RET gene in the cancer syndrome MEN2. He worked in the laboratories of Prof. Romeo (Genoa, Italy) to map and characterize the RET gene. After a short postdoctoral appointment he became head of the DNA diagnostic laboratory in 1996 at the Department of Medical Genetics of the UMC Groningen. In 2000 he became head of the Research and Development group at the Department of Medical Genetics, and in 2005 he was appointed as professor of Human Developmental Genetics. In 2012 he accepted an appointment as chair of the Department of Clinical Genetics at the Erasmus MC.

His main research objectives over the years were, and still are, to identify and characterize genes and mutations in genes contributing to inherited diseases and cancer and to understand how these mutant genes contribute to disease development. Most of the work in his group is focused on Hirschsprung Disease and Congenital Short Bowel Syndrome.

 

Work experience since graduating
January 2013 till January 2018
Honorary Professor of the Institute Of Child Health, University College London, UK

February 2012- present
Full Professor Human Genetics
Head of the Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands

September 2005-Januari 2012
Full Professor Human Developmental Genetics (persoonsgebonden leerstoel), Head Research and Development group, Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands. For more info see www.geneticsgroningen.nl
 
November 2000-September 2005  
Associate Professor, Research and Development group, Department of Medical Genetics,
University of Groningen, the Netherlands

May 1996-November 2000
Assistant Professor, Head of the DNA diagnostics laboratory, Department of Medical Genetics, University of Groningen, the Netherlands

June 1995-April 1996 
Post-doctoral position financed by De Stichting voor Erfelijkheidsvoorlichting. Research topic: “Improvement of mutation detection systems to be used in DNA diagnostics”

September 1992-March 1993
Visiting scientist in the laboratory of Prof. G. Romeo, Genoa, Italy.

January 1991-June 1995
PhD student on a project funded by the Dutch Cancer Society entitled: "Identification and characterization of the gene responsible for the development of the MEN 2A syndrome". Department of Medical Genetics, University of Groningen, the Netherlands.
 
June 1989-December 1990
Graduate student on a project funded by the Dutch Cancer Society entitled "Identification and characterization of a gene responsible for the development of small cell lung carcinoma". Department of Medical Genetics, University of Groningen, the Netherlands.

January 1989-May 1989
Research fellow in a biotechnology company called BioIntermediair. The aim of the research was to develop a test kit based on the use of antibodies.

His main research objectives over the years were, and still are, to identify and characterize genes and mutations in genes contributing to inherited diseases and cancer and to understand how these mutant genes contribute to disease development. Most of the work in his group is focused on Hirschsprung Disease and Congenital Short Bowel Syndrome and colon cancer. 
 

The research group
The research group consists of a clinical geneticist, 3 postdocs and 4 PhD students, working on grants from the Sophia Research foundation and NIH.

Recent grants awarded
2014
Sophia foundation (SSOW)
The involvement of epigenetic changes in the development of Hirschsprung disease
(PI Hofstra, 1Postdoc for 2 years)

2013 Sophia foundation (SSOW)
Isolation, characterization, and genetic rescue of enteric nervous system stem cells for use as a novel therapy in Hirschsprung diseas
(PI Hofstra, 1PhD student)

2013 NIH Grant Number: 1R21NS082546-01A1
Analysis of HSCR patient exome sequence data using Zebrafish
(PI Shepherd, co-PI Hofstra)

2012 MRace (Erasmus MC)
Isolation, characterization, and genetic rescue of enteric nervous system stem cells for use as a novel therapy in Hirschsprung disease
(PI Hofstra, 1PhD student)

2010 TOP subsidie ZonMw, 40-00812-98-10042

Hirschsprung disease as a model to determine the contribution of rare variants to polygenic diseases (2 PhD students, € 675,000)



Selected papers

  • Halim D, Hofstra RMW, 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 GenetEpub 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, 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

  • Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJM & Hofstra RMW. KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. (2010) Hum Mol Gen 19:3642-51

  • Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GMS, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA & Hofstra RMW. Homozygous nonsense mutations in KIAA1279 are associated with malformations of both the central and the enteric nervous system. (2005) Am J Hum Gen 77:120-126

  • Hofstra RMW, Osinga J, Tan G, Wu Y, Kamsteeg E-J, Stulp RP, van Ravenswaaij-Arts C, Angrist M, Chakravarti A, Meijers C & Buys CHCM. A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). (1996) Nature Genetics 12:445-447

  • Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Yin L, Pasini B, Höppener JWM, Ploos van Amstel HK, Romeo G, Lips CJM & Buys CHCM. A mutation in the RET proto-oncogene  associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. (1994) Nature 367:375-376