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.

Key publications

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel Céline   Vulto-van Silfhout Anneke T.   Coe Bradley P.   Vandeweyer Geert   Rooms Liesbeth   van den Ende Jenneke   Kooy Frank   Van der Aa Nathalie   et al.  
Nature genetics - ISSN 1061-4036-46:4 (2014) p. 380-384
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu Sofie   Rooms Liesbeth   Rainger Jacqueline   Vandeweyer Geert   Kooy Frank   et al.  
PLoS genetics - ISSN 1553-7390-10:4 (2014)
VariantDB : a flexible annotation and filtering portal for next generation sequencing data
Vandeweyer Geert   Van Laer Lut   Loeys Bart   van den Bulcke Tim   Kooy Frank  
Genome medicine - ISSN 1756-994X-6 (2014)
The GABA(A) receptor as a therapeutic target for neurodevelopmental disorders
Braat Sien   Kooy Frank  
Neuron - ISSN 0896-6273-86:5 (2015) p. 1119-1130
Fragile x syndrome : from genetics to targeted treatment
Willemsen Rob   Kooy Frank  
Amsterdam, Academic Press, 2017,498 p.
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome
Vandeweyer Geert   Van der Aa Nathalie   Reyniers Edwin   Kooy Frank  
The American journal of human genetics - ISSN 0002-9297-90:6 (2012) p. 1071-1078

Full bibliography of this research group


We gratefully acknowledge our most generous sponsors for their support