dr. G.W. (Gijs) van Haaften

dr. G.W. (Gijs) van Haaften

Associate Professor
dr. G.W. (Gijs) van Haaften
  • 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 (94)

Recurrent respiratory syncytial virus infection in a CD14 deficient patient

Besteman Sjanna B, Phung Emily, Raeven Henriette H M, Amatngalim Gimano D, Rumpret Matevž, Crabtree Juliet, Schepp Rutger M, Rodenburg Lisa W, Siemonsma Susanna G, Verleur Nile, van Slooten Rianne, Duran Karen, van Haaften Gijs, Beekman Jeffrey M, Chang Lauren A, Meyaard Linde, van der Bruggen Tjomme, Berbers Guy A M, Derksen Nicole, Nierkens Stefan, Morabito Kaitlyn M, Ruckwardt Tracy J, Kurt-Jones Evelyn A, Golenbock Douglas, Graham Barney S, Bont Louis J 16 Apr 2022, In: The Journal of infectious diseases. 226 , p. 258-269 12 p.

Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype

Snoek Rozemarijn, Claus Laura R., Peters Edith D. J., Savelberg Sanne M. C., Duran Karen, van der Veen Suzanne W., Brummelhuis Walter J., Rookmaaker Maarten, van der Zwaag Bert, Nguyen Tri Q., Broekhuizen Roel, Mesnard Laurent, Karras Alexandre, Sadeghi-Alavijeh Omid, Gale Daniel P., Elferink Martin, Oud Machteld M., Faber Siebren, Roepman Ronald, Hildebrandt Friedhelm, Klambt Verena, Knoers Nine V. A. M., Tessadori Federico, van Haaften Gijs W., van Eerde Albertien M. Apr 2022, In: European Journal of Human Genetics. 30 , p. 78-78

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Tessadori Federico, Duran Karen, Knapp Karen, Fellner Matthias, Smithson Sarah, Beleza Meireles Ana, Elting Mariet W, Waisfisz Quinten, O'Donnell-Luria Anne, Nowak Catherine, Douglas Jessica, Ronan Anne, Brunet Theresa, Kotzaeridou Urania, Svihovec Shayna, Saenz Margarita S, Thiffault Isabelle, Del Viso Florencia, Devine Patrick, Rego Shannon, Tenney Jessica, van Haeringen Arie, Ruivenkamp Claudia A L, Koene Saskia, Robertson Stephen P, Deshpande Charulata, Pfundt Rolph, Verbeek Nienke, van de Kamp Jiddeke M, Weiss Janneke M M, Ruiz Anna, Gabau Elisabeth, Banne Ehud, Pepler Alexander, Bottani Armand, Laurent Sacha, Guipponi Michel, Bijlsma Emilia, Bruel Ange-Line, Sorlin Arthur, Willis Mary, Powis Zoe, Smol Thomas, Vincent-Delorme Catherine, Baralle Diana, Colin Estelle, Revencu Nicole, Calpena Eduardo, Bakkers Jeroen, van Haaften Gijs, 17 Feb 2022, In: American Journal of Human Genetics. 109 , p. 750-758 9 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

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.

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.

All research output

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