dr. G.W. (Gijs) van Haaften

dr. G.W. (Gijs) van Haaften

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

Research Programs



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 (98)

WEE1 inhibitor adavosertib in combination with carboplatin in advanced TP53 mutated ovarian cancer:A biomarker-enriched phase II study

Embaby Alaa, Kutzera Joachim, Geenen Jill J, Pluim Dick, Hofland Ingrid, Sanders Joyce, Lopez-Yurda Marta, Beijnen Jos H, Huitema Alwin D R, Witteveen Petronella O, Steeghs Neeltje, van Haaften Gijs, van Vugt Marcel A T M, de Ridder Jeroen, Opdam Frans L 24 May 2023, In: Gynecologic Oncology. 174 , p. 239-246 8 p.

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels Irena J.J., Schene Imre F., Rehmann Holger, Massink Maarten P.G., van der Wal Maria M., Bauder Corinna, Labeur Martha, Armando Natalia G., Lequin Maarten H., Houben Michiel L., Giltay Jaques C., Haitjema Saskia, Huisman Albert, Vansenne Fleur, Bluvstein Judith, Pappas John, Shailee Lala V., Zarate Yuri A., Mokry Michal, van Haaften Gijs W., Nieuwenhuis Edward E.S., Refojo Damian, van Wijk Femke, Fuchs Sabine A., van Hasselt Peter M. 5 Jan 2023, In: American Journal of Human Genetics. 110 , p. 146-160 15 p.

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10

Créton Marijn, Wagener Frank, Massink Maarten, Fennis Willem, Bloemen Marjon, Schols Jan, Aarts Miranda, van der Molen Aebele Mink, van Haaften Gijs, van den Boogaard Marie José 2023, In: American Journal of Medical Genetics, Part A. 191 , p. 1083-1088 6 p.

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.

Lymphedema as first clinical presentation of Cantu Syndrome:reversed phenotyping after identification of gain-of-function variant in ABCC9

Gao Jian, McClenaghan Conor, Christiaans Imke, Alders Marielle, van Duinen Kirsten, van Haelst Mieke M., van Haaften Gijs, Nichols Colin G. 2022, In: European Journal of Human Genetics. 31 , p. 188-194 7 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

All research output

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