Profile photo Gijs van Haaften

Gijs van Haaften

Associate Professor

Strategic program(s):

Biography

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

Research groups

Congenital heart disease

Research aim

To improve long term cardiovascular and neurodevelopmental outcome in patients with severe congenital heart disease.

Go to group

Recent publications

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome Lotte Kleinendorst, Sarah E Siegelaar, Helen I Roessler, Lema Meiwand, Malou van den Boogaard, Rianne H A C M de Bruin-Bon, Kirsten F van Duinen, R Nils Planken, Elisabeth H Jaspars, Patrick M J H Kemperman, Berto J Bouma, Colin G Nichols, Marcel W Bekkenk, Gijs W van Haaften, Mieke M van Haelst
Scientific Reports, 2025, vol. 15
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy Maria M. Zwartkruis, Joris V. Kortooms, Demi Gommers, Martin G. Elferink, Ilaria Signoria, Joyce van der Sel, Paul J. Hop, Ramona A.J. Zwamborn, Robin Geene, Jared W. Green, Hanneke W.M. van Deutekom, Wouter van Rheenen, Jan H. Veldink, Fay Lynn Asselman, Renske I. Wadman, W. Ludo van der Pol, Gijs W. van Haaften, Ewout J.N. Groen
iScience, 2025, vol. 28
Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency) Jolita Ciapaite, Monique Albersen, Sanne M.C. Savelberg, Marjolein Bosma, Nils W.F. Meijer, Federico Tessadori, Jeroen P.W. Bakkers, Gijs van Haaften, Judith J. Jans, Nanda M. Verhoeven-Duif
International Journal of Molecular Sciences, 2025, vol. 26
A de novo deletion underlying spinal muscular atrophy Maria M Zwartkruis, Mirjam S de Pagter, Demi Gommers, Marije Koopmans, Cecile P E Ottenheim, Joris V Kortooms, Mirjan Albring, Martin G Elferink, Renske I Wadman, Fay-Lynn Asselman, Inge Cuppen, W Ludo van der Pol, Marcel R Nelen, Gijs W van Haaften, Ewout J N Groen
Human molecular genetics, 2025, vol. 34, p.894–904
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy M M Zwartkruis, M G Elferink, D Gommers, I Signoria, L Blasco-Pérez, M Costa-Roger, J van der Sel, I J Renkens, J W Green, J V Kortooms, C Vermeulen, R Straver, H W M van Deutekom, J H Veldink, F Asselman, E F Tizzano, R I Wadman, W L van der Pol, G W van Haaften, E J N Groen
Genome Medicine, 2025, vol. 17
Development of the Dutch translational knowledge agenda for inherited metabolic diseases I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J.J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven-Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J.A. Wanders, R. A. Wevers
JIMD Reports, 2025, vol. 66

Fellowships & Awards

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