dr. L.B.A. de Vries (Bert)
Hoofdonderzoeker - Donders Center of Medical Neurosciences
Hoofdonderzoeker - Donders Institute for Brain, Cognition and Behaviour
Dr Bert B.A. de Vries is clinical geneticist whose central research theme for more than 20 years has been the clinical and molecular study of intellectual disability. He and his group have an extensive experience into linking the genotype to the phenotype et vice versa, leading to the identification of numerous novel genetic defects and clinical syndromes.
Within his group, new deletion/duplication syndromes were identified, and subsequent gene identifications in the defined genomic areas became a reality, as in the CHARGE syndrome with the CHD7 gene, the 9q34 deletion syndrome with the EHMT1 gene and the 17q21.31 microdeletion syndrome with the KANSL1.
Subsequently, he was involved in the introduction of whole exome/genome sequencing which led to identification of the causative genes for Schinzel-Giedion syndrome, Bohring-Opitz syndrome, Cantu syndrome and de novo mutations in various genes for intellectual disability. In recent years the clinical interpretation of novel genetic mutations (genotype first approach) has led to extensive studies (clinical, functional and as animal models) leading to novel insights for various genes not only linked to ID but to autism as well, e.g. TDP2, DEAF1, NR2F1 and, respectively, ADNP and CHD8.
Since 2011, he is PI at the Radboud UMC which allows him to perform his research next to his clinical work.
- Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014 Jul 17;158(2):263-76.
- Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014 May 1;94(5):649-61.
- Gómez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, Counihan TJ, Chaila E, Conroy J, Ennis S, Delanty N, Cortés-Ledesma F, de Brouwer AP, Cavalleri GL, El-Khamisy SF, de Vries BB, Caldecott KW. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nat Genet. 2014 May;46(5):516-21.
- Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639-41.
- Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Jun 26;43(8):729-31.
Onderzoeksbeurzen en -prijzen
- 2013 - TOPsubsidy grant provided by the Dutch Organization for Scientific Research (NWO) Title: ‘Gene identification in Intellectual Disability Disorders in the era of Next Generation Sequencing’ . >
- 2009 - 7th Framework provided by the European Union. Title: ‘Genetic and Epigenetic Networks in Cognitive Dysfunction ( GENCODYS)’ . Co-investigator with prof H. van Bokhoven en dr. A. Schenck.>
- 2007 - Vidi award given by Dutch Organization for Scientific Research (NWO). Title: ‘Genes and Mental Retardation’. >
- 2006 - 6th Framework, AnEUploidy: understanding gene dosage imbalance in human health using genetics, functional genomics and system biology. Co-investigator with prof. H. Brunner and prof. J. Veltman.>
- 2003 - A 5 years personal Clinical Fellowship provided by the Dutch Organization for Scientific Research (NWO) Title: 'A chromosomal microdeletion map of human malformations and mental retardation'.>
- Additional Internship and Report
- Bachelor Internship and Report
- Internship Bachelor Biology
- MSc Human Biology internship
- Master (Medical) Biology SMI/SIS internship
- Master (Medical) Biology education internship
- Master (Medical) Biology research internship 1
- Master (Medical) Biology research internship 2
- Master Thesis (TWM)
- Research Proposal
- Review Article
- Second Internship
- Third Internship