dr. G.W. (Gijs) van Haaften
dr. G.W. (Gijs) van Haaften
- Metabolomics
Research Programs
Biography
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
- Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM; Deciphering Developmental Disorders Study, Scott RH, van Gassen KLI, Bakkers J, van Haaften G. Nat Genet. 2017 Nov;49(11):1642-1646.
- Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. J Clin Invest. 2016 Aug 1;126(8):2881-92.
- Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G. Genet Med. 2016 Sep;18(9):949-56.
- Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. Massink MP, Créton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G. Am J Hum Genet. 2015 Oct 1;97(4):621-6.
- Monocarboxylate transporter 1 deficiency and ketone utilization. van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G. N Engl J Med. 2014 Nov 13;371(20):1900-7.
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 (102)
Nijboer Tanja C W, Hessel Ellen V S, van Haaften Gijs W, van Zandvoort Martine J, van der Spek Peter J, Troelstra Christine, de Kovel Carolien G F, Koeleman Bobby P C, van der Zwaag Bert, Brilstra Eva H, Burbach J Peter H Sep 2023, In: PLoS ONE. 18 17 p.
Koop Klaas, Yuan Weimin, Tessadori Federico, Rodriguez-Polanco Wilmer R, Grubbs Jeremy, Zhang Bo, Osmond Matt, Graham Gail, Sawyer Sarah, Conboy Erin, Vetrini Francesco, Treat Kayla, Płoski Rafal, Pienkowski Victor Murcia, Kłosowska Anna, Fieg Elizabeth, Krier Joel, Mallebranche Coralie, Alban Ziegler, Aldinger Kimberly A, Ritter Deborah, Macnamara Ellen, Sullivan Bonnie, Herriges John, Alaimo Joseph T, Helbig Catherine, Ellis Colin A, Eyk Clare, Gecz Jozef, Farrugia Daniel, Osei-Owusu Ikeoluwa, Adès Lesley, Boogaard Marie-Jose, Fuchs Sabine, Bakker Jeroen, Duran Karen, Dawson Zachary D, Lindsey Anika, Huang Huiyan, Baldridge Dustin, Silverman Gary A, Grant Barth D, Raizen David, Network Undiagnosed Diseases, Haaften Gijs, Pak Stephen C, Rehmann Holger, Schedl Tim, van Hasselt Peter 8 Aug 2023, In: Human molecular genetics. 32 , p. 3063-3077 15 p.
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.
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.
Claus Laura R, Chen Chuan, Stallworth Jennifer, Turner Joshua L, Slaats Gisela, Hawks Alexandra L, Mabillard Holly, Senum Sarah R, Srikanth Sujata, Flanagan-Steet Heather, Louie Raymond J, Silver Josh, Lerner-Ellis Jordan, Morel Chantal, Mighton Chloe, Sleutels Frank, van Slegtenhorst Marjon, van Ham Tjakko, Brooks Alice S, Dorresteijn Eiske M, Barakat Tahsin Stefan, Dahan Karin, Demoulin Nathalie, Goffin Eric Jean, Olinger Eric, Larsen Martin, Hertz Jens Michael, Lilien Marc R, Obeidová Lena, Seeman Tomas, Stone Hillarey K, Kerecuk Larissa, Gurgu Mihai, Yousef Yengej Fjodor A, Ammerlaan Carola Me, Rookmaaker Maarten B, Hanna Christian, Rogers R Curtis, Duran Karen, Peters Edith, Sayer John A, van Haaften Gijs, Harris Peter C, Ling Kun, Mason Jennifer M, van Eerde Albertien M, Steet Richard, 2023, In: Kidney International. 104 , p. 995-1007 13 p.
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.
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.
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
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.
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.