dr. G.W. (Gijs) van Haaften

Associate Professor

  • Research Genetics

dr. G.W. (Gijs) van Haaften


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 (82)

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 mei 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 mei 2020, In: European Journal of Human Genetics. 28 , p. 674-678 5 p.

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Tessadori Federico, Gerrits Johan, Lansu Nico, Zwakenberg Susan, Bakkers Jeroen P W, Zwartkruis Fried J T, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M 1 mrt 2020, In: Biochimica et Biophysica Acta. Molecular Basis of Disease. 1866 11 p.

Cantú syndrome:Findings from 74 patients in the International Cantú Syndrome Registry

Grange Dorothy K., Roessler Helen I., McClenaghan Conor, Duran Karen, Shields Kathleen, Remedi Maria S., Knoers Nine V.A.M., Lee Jin Moo, Kirk Edwin P., Scurr Ingrid, Smithson Sarah F., Singh Gautam K., van Haelst Mieke M., Nichols Colin G., van Haaften Gijs 1 dec 2019, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181 , p. 658-681 24 p.

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Oegema Renske, McGillivray George, Leventer Richard, Le Moing Anne-Gaëlle, Bahi-Buisson Nadia, Barnicoat Angela, Mandelstam Simone, Francis David, Francis Fiona, Mancini Grazia M S, Savelberg Sanne, van Haaften Gijs, Mankad Kshitij, Lequin Maarten H 11 nov 2019, In: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 181 , p. 627-637 11 p.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Smeland Marie F, McClenaghan Conor, Roessler Helen I, Savelberg Sanne, Hansen Geir Åsmund Myge, Hjellnes Helene, Arntzen Kjell Arne, Müller Kai Ivar, Dybesland Andreas Rosenberger, Harter Theresa, Sala-Rabanal Monica, Emfinger Chris H, Huang Yan, Singareddy Soma S, Gunn Jamie, Wozniak David F, Kovacs Attila, Massink Maarten, Tessadori Federico, Kamel Sarah M, Bakkers Jeroen, Remedi Maria S, Van Ghelue Marijke, Nichols Colin G, van Haaften Gijs 1 okt 2019, In: Nature Communications. 10

Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents

Houtman Marien J C, Chen Xingyu, Qile Muge, Duran Karen, van Haaften Gijs, Stary-Weinzinger Anna, van der Heyden Marcel A G 1 aug 2019, In: Journal of Cellular and Molecular Medicine. 23 , p. 4962-4969 8 p.

Identification of human D lactate dehydrogenase deficiency

Monroe Glen R, van Eerde Albertien M, Tessadori Federico, Duran Karen J, Savelberg Sanne M C, van Alfen Johanna C, Terhal Paulien A, van der Crabben Saskia N, Lichtenbelt Klaske D, Fuchs Sabine A, Gerrits Johan, van Roosmalen Markus J, van Gassen Koen L, van Aalderen Mirjam, Koot Bart G, Oostendorp Marlies, Duran Marinus, Visser Gepke, de Koning Tom J, Calì Francesco, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 apr 2019, In: Nature Communications. 10

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

Gregory Louise C., Ferreira Carolina B., Young-Baird Sara K., Williams Hywel J., Harakalova Magdalena, van Haaften Gijs, Rahman Sofia A., Gaston-Massuet Carles, Kelberman Daniel, GOSgene , Qasim Waseem, Camper Sally A., Dever Thomas E., Shah Pratik, Robinson Iain C.A.F., Dattani Mehul T. 1 apr 2019, In: EBioMedicine. 42 , p. 470-480 11 p.

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity

Broekema Marjoleine F., Massink Maarten P.G., Donato Cinzia, de Ligt Joep, Schaarschmidt Joerg, Borgman Anouska, Schooneman Marieke G., Melchers Diana, Gerding Martin N., Houtman René, Bonvin Alexandre M.J.J., Majithia Amit R., Monajemi Houshang, van Haaften Gijs W., Soeters Maarten R., Kalkhoven Eric 1 feb 2019, In: Molecular Metabolism. 20 , p. 115-127 13 p.

All Research Output (82)