- 1/2009-current | Department of Complex Trait Genetics, CNCR, VU University Amsterdam and Department of clinical genetics, VUMC| Position: PhD student | Project: Genetic causes of Intellectual disability
- 1/2009-current | Department of clinical genetics, VUMC| Position: clinical genetesist in training | subspecialisation: Dysmorphology, novel techniques and intellectual disability.
- 2006-2009 | ANIOS clinical genetics
- 2005-2006 | ANIOS pediatrics and pulmology
- 2003-2005 | Medical Internship (for MD)|final internship at pediatric neurology Radboud University Nijmegen and the department of clinical genetics VUMC |
- 1998-2003 | Radboud University Nijmegen, Medicine, cum laude |including research internship (6 months) in pediatric neurology Radboud University.
- 1992-1998 | High school CLV, Veenendaal, cum laude
- Gea Beunders, Sonja A. de Munnik, Nathalie Van der Aa, Berten Ceulemans, Els Voorhoeve, Alexander J. Groffen, Willy M. Nillesen, Elizabeth J. Meijers-Heijboer, R. Frank Kooy, Helger G. Yntema, Erik A. Sistermans (submitted), Two male adults with AUTS2 mutations, including a two basepair deletion, further delineate the AUTS2 syndrome. European Journal of Human Genetics 2014 Sep 10. doi: 10.1038/ejhg.2014.173. [Epub ahead of print]
- Beunders G*, Voorhoeve E*, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics 2013 Feb 7;92(2):210-20 *Shared first authorship.
- Rizzi TS, Beunders G, Rizzu P, Sistermans E, Twisk JW, van Mechelen W, Deijen JB, Meijers-Heijboer H, Verhage M, Heutink P, Posthuma D. Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25. Genes Brain Behavior 2012 Oct;11(7):767-71
- Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clinical Genetics 2011 Jul;80(1):31-8 Apr;47(4):271-5
- Jansen C, Parchi P, Jelles B, Gouw AA, Beunders G, van Spaendonk RM, van de Kamp JM, Lemstra AW, Capellari S, Rozemuller AJ. The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits.Neuropatholy and Applied Neurobiology, 2011 Aug;37(5):549-53
- Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA. A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. Journal of Medical Genetics 2010 Apr;47(4):271-5
Genetic cause of intellectual disability, low and high risk genes.
Intellectual disabillity (ID) is a developmental disorder affecting about 3% of children worldwide. ID is broadly defined as ‘significant limitations both in cognitive ability (IQ<70) and in adaptive behaviour as expressed in conceptual, social and practical adaptive skills.
Intellectual disability can be present as a non-syndromic or a syndromic form. The non-specific or non-syndromic form presents as an isolated form of intellectual disability with no other distinct features. In the syndromic form, intellectual disability is one feature of a complex of symptoms, and can coincide with dysmorphic features or major physical malformations.
Within the total group of the intellectually disabled, the majority (60%-85%) is classified as mild. Even though a large number of MR-genes have been identified in the last years the cause of the mild non-specific MR or borderline intelligence remains largely unknown. We hypothesize that mild non-specific MR and borderline intelligence is to a great extent caused by the additive impact of variations with a small effect in multiple genes. A proof-ofprinciple study, “Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.” (Rizzi et al. 2012)) provides evidence for this hypothesis.
My research research is focused at:
1. A syndromic form of ID caused by (mendelian inherited) gene alterations and copy number variations of the AUTS2 gene: The AUTS2 syndrome. We emphasize to analyze the clinical consequences the genotype-phenotype correlation of the AUTS2 syndrome.
2. Mild non syndromic ID which we hypotezise is often caused by multifactorial causes.We propose to apply a novel method for defining functional gene networks (FGNs) according to shared cellular function. The main aim of my project is to genes and genenetworks that give a moderate to low increase in the risk for ID.
VU - Center for Neurogenomics and Cognitive Research