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Dr Bert. B.A. de Vries is a clinical geneticist whose central research theme for more than 25 years has been the clinical and molecular study of neurodevelopmental disorders such as intellectual disability and autism in order to increase insight in the aetiology of these common disorders.

Since his start at the Radboud UMC in 2001, he and his team have had a keen eye to select the right patients to delineate the genetic basis of intellectual disability and autism. One of the excellent text book examples involves the elucidation of Koolen-de Vries syndrome, caused by a 17q21.31 microdeletion, and imminent haploinsufficiency of KANSL1 residing within this genomic locus.

Similarly, his clinical expertise in recognizing and selection of key patients has been instrumental in the discovery of the genes underlying Schinzel-Giedion syndrome, Bohring-Opitz syndrome, Cantu syndrome and de novo mutations in various genes underlying ID and autism. He facilitated the clinical interpretation of novel ID-related genes by using both functional and animal studies (such as for TDP2, DEAF1 and NR2F1), as well as for genes related to autism (ADNP, CHD8, DYRK1A). Moreover, his contribution of identifying novel syndromes is also reflected in the names of some of the novel syndromes: Koolen-deVries syndroom, het Gabriele-deVries syndroom, Jansen-deVries syndroom, Vulto-vanSilfhout-deVries syndroom en Nabais-Sa-deVries syndroom.

Importantly, some results were achieved within the international ‘Microdeletion/Mutation Network’ under his direct leadership. Additionally, he has initiated the Human Disease Genes website series (http://humandiseasegenes.nl/), representing an international library of websites for professional information on genes and copy number variants and their clinical consequences.

Since 2011, he is PI at the Radboud UMC which allows him to perform his research next to his clinical work.