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.
- Albertien van Eerde, postdoc
- Christina Stangl, PhD student
- Edith Peters, technician
- Federico Tessadori, postdoc
- Glen Monroe postdoc
- Helen Roessler, PhD student
- Joachim Kutzera, postdoc
- Joline Roze, PhD student
- Karen Duran, senior technician
- Kirsten Renkema, postdoc
- Monroe GR*, Frederix GW*, Savelberg S, de Vries T, Duran K, van der Smagt JJ, Terhal P, van Hasselt P, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen K, Knoers NV, Hövels AM, van Haelst MM, Visser G**, van Haaften G**, Effectiveness of Whole Exome Sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability, Genetics in Medicine, in press
- Massink MP*, Créton MA*, Spanevello F*, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ#, van Haaften G#. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. Am J Hum Genet. 2015 Oct 1;97(4):621-6.
- Peter M van Hasselt*, Sacha Ferdinandusse*, Glen R Monroe, Jos PN Ruiter, Marjolein Turkenburg, Maartje J Geerlings, Karen Duran, Magdalena Harakalova, Bert van der Zwaag, Ardeshir A. Monavari, Ilyas Okur, Mark J Sharrard, Maureen Cleary, Nuala O’Connell, Valerie Walker, M Estela Rubio-Gozalbo, Maaike C. de Vries, Gepke Visser, Roderick HJ Houwen, Jasper J van der Smagt, Nanda M Verhoeven-Duif, Ronald JA Wanders, Gijs van Haaften. Monocarboxylate Transporter Type 1 Deficiency and Ketone Utilization, N Engl J Med. 2014 Nov 13;371(20):1900-7.
- Harakalova M*, van Harssel JJ*, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G#, Cuppen E#. Dominant missense mutations in ABCC9 cause Cantú syndrome. Nature Genetics 2012 May 18. #Shared corresponding author
- van Haaften, G.*, Dalgliesh, G.*, Davies, H.*, …., Teh, B.T., Stratton, M.R., Futreal, P.A. (2009) Somatic mutations of the histone H3K27 demethylase, UTX, in human cancer. Nature Genetics, 41(5):521-3
More contact information
Stratenum room 0.310
3584 CG Utrecht
Monique van Schaick
+31 (0)88 75 68312