Human Genetics already TOP in personalized medicine

Foto Human Genetics ZONMW

Nijmegen's Human Genetics department already TOP in personalized medicine: TOP grant to Bert de Vries, Joris Veltman and Annette Schenck.

Next generation sequencing has revolutionized genome research, but the challenge to identify the disease causing variants and genes amongst all changes in the interrogated DNA remains limiting. In Intellectual Disability disorders, half of individuals presently do not obtain a clear diagnosis.

In this TOP grant two complementary strategies will be exploited to overcome this bottleneck. First, a large amount of individuals with similar phenotype will be tested for mutations in identified genes. Second, the role of candidate genes in brain development and cognitive function, such as learning and memory, will be tested in the fruitfly Drosophila as a model. The obtained results will provide novel insights into genetic control of cognition and improve diagnosis, personalized patient support and treatment.

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