What we do

So far, our research has focussed on mental retardation, now commonly referred to as intellectual disability. Intellectual disability occurs with an estimated frequency of 2-3% in the total population and is due to a genetic defect in the majority of cases. As the causes of the developmental delay are extremely heterogeneous and large families with intellectual disability are rare due to their low fecundity, the identification of the cause of the cognitive impairment requires an approach specific for this type of disorder.

We identify novel causes of cognitive disorders starting from rare, affected families or from patients with specific chromosomal abnormalities, including microdeletions or microduplications, translocations and fragile sites. To achieve this, we have developed novel technologies and optimized existing methods. For the functional study of the genes of interest, we rely heavily on mouse models. These are fully characterized and are also used in drug trials. To this end, our studies on fragile X syndrome, a common form of cognitive impairment have raised hopes for targeted treatment in patients.

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP

Source
Biological psychiatry - ISSN 0006-3223-85:4 (2019) p. 287-297
Author(s)
    Anke Van Dijck, Anneke T. Vulto-van Silfhout, Elisa Cappuyns, Ilse van der Werf, Grazia M. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransen, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabiola Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurelia Jacquette, Laurence Faivre, Stephane Bezieau, Bertrand Isidor, Angelika Riess, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Leah Slattery

Fragile x syndrome : from genetics to targeted treatment

Source
Amsterdam, Academic Press, 2017,498 p.
Author(s)

The GABA(A) receptor as a therapeutic target for neurodevelopmental disorders

Source
Neuron - ISSN 0896-6273-86:5 (2015) p. 1119-1130