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R.M.W. (Robert) Hofstra, PhD

Head of department

Head of department

  • Department
  • Clinical Genetics



I am fascinated by the fact that one single mutation in the context of 6 billion base pairs can have such a devastating effect. That a single mutation can destroy health life long or even can cause early death. It is this fascination that drives my research. Therefore, my research aims are understanding how DNA variations can cause or contribute to disease development. My research objectives are to identify and functionally characterize genes and mutations within these genes that contribute to the development of inherited diseases. The work performed in my group is mainly focused on abnormalities of the gastrointestinal tract.

Education and career

1991 - 1995

PhD student, University of Groningen, the Netherlands.

1992 - 1993

Visiting scientist in the laboratory of Prof. G. Romeo, Genoa, Italy.

1995 - 1996

Post-doctoral fellow University of Groningen, the Netherlands.

1996 - 2000

Assistant Professor, Head DNA diagnostic laboratory Associate, University of Groningen, the Netherlands.

2000 - 2005

Associate Professor, University of Groningen, the Netherlands.

2005 - 2012

Professor, Head Research and Development group, Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands.

2012 - current

Professor, Head of the Department of Clinical Genetics Erasmus Medical Center University of Rotterdam, Rotterdam, the Netherlands.

2013 - 2020

Honorary Professor of the Institute Of Child Health, University College London, UK.


Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, IJcken WFJV, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT & Hofstra RMW. (2018). I Gastroenterology. 2018 155(1):118-129.e6.

Do RET somatic mutations play a role in Hirschsprung disease?
Brosens E, MacKenzie KC, Alves MM & Hofstra RMW. (2018) Genet Med. doi: 10.1038/gim.2018.6.

Loss-of-function variants in MYLK cause recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Brosens E, Muller F, Wangler MF, Beaudet A, Lupski JR, Coban ZH Akdemir, Doukas AMD, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury J-F, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW & Alves MM. (2017). Am J Hum Genet. 2017 Jul 6;101(1):123-129.

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RMW & Miano JM. (2017). Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM & Hofstra RMW. (2017). Genome Biol. 2017 Mar 8;18(1):48.

My Groups