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

Congential heart disease

Research aim

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

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Recent publications

WEE1 inhibitor adavosertib in combination with carboplatin in advanced TP53 mutated ovarian cancer Alaa Embaby, Joachim Kutzera, Jill J Geenen, Dick Pluim, Ingrid Hofland, Joyce Sanders, Marta Lopez-Yurda, Jos H Beijnen, Alwin D R Huitema, Petronella O Witteveen, Neeltje Steeghs, Gijs van Haaften, Marcel A T M van Vugt, Jeroen de Ridder, Frans L Opdam
Gynecologic Oncology, 2023, vol. 174, p.239-246
Macrocephaly and developmental delay caused by missense variants in RAB5C Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs, Bo Zhang, Matt Osmond, Gail Graham, Sarah Sawyer, Erin Conboy, Francesco Vetrini, Kayla Treat, Rafal Płoski, Victor Murcia Pienkowski, Anna Kłosowska, Elizabeth Fieg, Joel Krier, Coralie Mallebranche, Ziegler Alban, Kimberly A Aldinger, Deborah Ritter, Ellen Macnamara, Bonnie Sullivan, John Herriges, Joseph T Alaimo, Catherine Helbig, Colin A Ellis, Clare Eyk, Jozef Gecz, Daniel Farrugia, Ikeoluwa Osei-Owusu, Lesley Adès, Marie-Jose Boogaard, Sabine Fuchs, Jeroen Bakker, Karen Duran, Zachary D Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A Silverman, Barth D Grant, David Raizen, Undiagnosed Diseases Network, Gijs Haaften, Stephen C Pak, Holger Rehmann, Tim Schedl, Peter van Hasselt
Human molecular genetics, 2023, vol. 32, p.3063-3077
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10 Marijn Créton, Frank Wagener, Maarten Massink, Willem Fennis, Marjon Bloemen, Jan Schols, Miranda Aarts, Aebele Mink van der Molen, Gijs van Haaften, Marie José van den Boogaard
American Journal of Medical Genetics, Part A, 2023, vol. 191, p.1083-1088
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Irena J.J. Muffels, Imre F. Schene, Holger Rehmann, Maarten P.G. Massink, Maria M. van der Wal, Corinna Bauder, Martha Labeur, Natalia G. Armando, Maarten H. Lequin, Michiel L. Houben, Jaques C. Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V. Shailee, Yuri A. Zarate, Michal Mokry, Gijs W. van Haaften, Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt
American Journal of Human Genetics, 2023, vol. 110, p.146-160
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease Laura R Claus, Chuan Chen, Jennifer Stallworth, Joshua L Turner, Gisela Slaats, Alexandra L Hawks, Holly Mabillard, Sarah R Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjakko van Ham, Alice S Brooks, Eiske M Dorresteijn, Tahsin Stefan Barakat, Karin Dahan, Nathalie Demoulin, Eric Jean Goffin, Eric Olinger, Martin Larsen, Jens Michael Hertz, Marc R Lilien, Lena Obeidová, Tomas Seeman, Hillarey K Stone, Larissa Kerecuk, Mihai Gurgu, Fjodor A Yousef Yengej, Carola Me Ammerlaan, Maarten B Rookmaaker, Christian Hanna, R Curtis Rogers, Karen Duran, Edith Peters, John A Sayer, Gijs van Haaften, Peter C Harris, Kun Ling, Jennifer M Mason, Albertien M van Eerde, Richard Steet,
Kidney International, 2023, vol. 104, p.995-1007
Identification of candidate genes for developmental colour agnosia in a single unique family Tanja C W Nijboer, Ellen V S Hessel, Gijs W van Haaften, Martine J van Zandvoort, Peter J van der Spek, Christine Troelstra, Carolien G F de Kovel, Bobby P C Koeleman, Bert van der Zwaag, Eva H Brilstra, J Peter H Burbach
PLoS ONE, 2023, vol. 18

Fellowships & Awards

2022: For Wishdom 2022: Oog voor de toekomst