drs. ir. J. (Gijs) van Houtkamp

drs. ir. J. (Gijs) van Houtkamp

Associate Professor
drs. ir. J. (Gijs) van Houtkamp
  • Metabolomics



Areas of expertise

The last five years I have established my own research group working on the genetics and biology of orphan diseases with a focus on metabolic disorders. In my vision genetics is the crucial connecting factor between patients, clinicians, diagnostics, translational research and basic research. I believe in highly collaborative science where my broad background allows me to unite the important stakeholders. My background is highly multidisciplinairy, I studied (bio)chemistry, obtained a PhD in model system genetics followed by postdoctoral work in human disease biology. I have led several successful collaborations, uniting clinicians, lab specialists and researchers from within the UMCU, the Hubrecht Institute and elsewhere, leading to the identification of novel genetic causes of human diseases and last author publications in excellent journals such as Nature Genetics, the New England Journal of Medicine and the American Journal of Human Genetics.


Research program / group

My research group works on the genetics and biology of orphan diseases. We use the latest sequencing technology to identify the causal mutations in rare genetic disorders. Subsequently we study the consequences of these mutations in model systems as human cell lines and the zebrafish. For the zebrafish work we collaborate closely with the lab of Jeroen Bakkers at the Hubrecht institute.

I coordinate the CantuTreat consortium under the frame of E-Rare-2, the ERA-Net for Research on Rare Diseases. The main goal of the €500.000 grant is to develop a therapeutic approach for Cantu syndrome. The project involves setting up a global patient registry and in silico, in vitro and in vivo testing of sulfonylurea drugs to correct the function of the mutated KATP channel.

  • Identification of the genetic cause of orphan diseases. We combine whole exome sequencing and subsequent functional studies to pinpoint the causal mutations in several congenital disorders.
  • Towards treatment of Cantu syndrome. In 2012 we discovered the genetic cause of Cantu syndrome. This rare genetic disorder, characterized by congenital hypertrichosis, distinctive facial features and cardiac defects, is caused by usually de novo missense mutations in the K-ATP channel subunit ABCC9. Currently we are investigating whether drugs targeting this channel might be beneficial for Cantu patients.
  • Congenital heart disease. In collaboration with several departments within the UMC Utrecht we perform genetic analysis and subsequent functional studies to further understand how we can help children with congenital heart disease in the best possible way.


Group members

Albertien van Eerde (Post doc)
Anukrati Nigam (PhD student)
Christina Stangl (PhD student)
Edith Peters (Technician)
Federico Tessadori (Senior Post doc)
Glen Monroe (Post doc)
Helen Roessler (PhD student)
Joachim Kutzera (Post doc)
Joline Roze (PhD student)
Karen Duran (Senior Technician)
Kirsten Renkema (Assistant prof)
Rozemarijn Snoek (PhD student)
Sanne Savelberg (Technician)


Selected publications

Side Activities

Head of section research genetics
Member of management team department of Genetics
Coordinator of the CantuTreat consortium (ERare 2014)

Fellowship and Awards

NWO Veni fellowship 2010
EMBO long-term fellowship 2006
Best paper (Erfelijke Stofwisselsziekten Nederland, 2015)

Research Output (91)

FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring

Groeneweg Jolijn W, Roze Joline F, Peters Edith D J, Sereno Ferdinando, Brink Anna G J, Paijens Sterre T, Nijman Hans W, van Meurs Hannah S, van Lonkhuijzen Luc R C W, Piek Jurgen M J, Lok Christianne A R, Monroe Glen R, van Haaften Gijs W, Zweemer Ronald P Aug 2021, In: Gynecologic Oncology. 162 , p. 413-420 8 p.

Behavioral and cognitive functioning in individuals with Cantú syndrome

Roessler Helen I., van Der Heuvel Lieke M., Shields Kathleen, Guilliams Kristin P., Knoers Nine V. A. M., van Haaften Gijs, Grange Dorothy K., van Haelst Mieke M. Aug 2021, In: American Journal of Medical Genetics. Part A. 185 , p. 2434-2444

Young adult with Cantú syndrome:Dealing with a rare genetic skin disorder

Roessler Helen, I, van Haaften Gijs, van Haelst Mieke M. 12 Jul 2021, In: BMJ Case Reports. 14 , p. 1-3

Familial Occurrence of Adult Granulosa Cell Tumors:Analysis of Whole-Genome Germline Variants

Roze Joline F, Kutzera Joachim, Koole Wouter, Ausems Margreet G E M, Engelstad Kristi, Piek Jurgen M J, de Kroon Cor D, Verheijen René H M, van Haaften Gijs, Zweemer Ronald P, Monroe Glen R 2 May 2021, In: Cancers. 13 13 p.

Drug Repurposing for Rare Diseases

Roessler Helen I., Knoers Nine V.A.M., van Haelst Mieke M., van Haaften Gijs Apr 2021, In: Trends in Pharmacological Sciences. 42 , p. 255-267 13 p.

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

Willemse Brigitte W M, van der Crabben Saskia N, Kerstjens-Frederikse Wilhelmina S, Timens Wim, van Montfrans Joris M, Lindemans Caroline A, Boelens Jaap Jan, Hennus Marije P, van Haaften Gijs 19 Mar 2021, In: Orphanet Journal of Rare Diseases. 16

In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors

Roze Joline, Sendino Garví Elena, Stelloo Ellen, Stangl Christina, Sereno Ferdinando, Duran Karen, Groeneweg Jolijn, Paijens Sterre, Nijman Hans, van Meurs Hannah, van Lonkhuijzen Luc, Piek Jurgen, Lok Christianne, Jonges Geertruida, Witteveen Petronella, Verheijen René, van Haaften Gijs, Zweemer Ronald, Monroe Glen 1 Feb 2021, In: Cancers. 13 , p. 1-18 18 p.

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

Muffels Irena J J, Wiame Elsa, Fuchs Sabine A, Massink Maarten P G, Rehmann Holger, Musch Jiska L I, Van Haaften Gijs, Vertommen Didier, van Schaftingen Emile, van Hasselt Peter M 2021, In: Brain communications. 3 , p. 1-14

Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup

Roze Joline, Monroe Glen, Kutzera Joachim, Groeneweg Jolijn, Stelloo Ellen, Paijens Sterre, Nijman Hans, Meurs Hannah van, Lonkhuijzen Luc van, Piek Jurgen, Lok Christianne, Jonges Geertruida, Witteveen Petronella, Verheijen René, Haaften Gijs van, Zweemer Ronald 21 May 2020, In: Cancers. 12 22 p.

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

Tessadori Federico, Rehman Atteeq U, Giltay Jacques C, Xia Fan, Streff Haley, Duran Karen, Bakkers Jeroen, Lalani Seema R, van Haaften Gijs May 2020, In: European Journal of Human Genetics. 28 , p. 674-678 5 p.

All research output

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