Hans van BOKHOVEN:  Nijmegen Center for Molecular Life Sciences (The Netherlands)

The main research goal is to gain insight into the molecular underpinnings of development, with an emphasis on development and functioning of the nervous system and its building blocks, the neurons and other cell types. Our research has identified a large number of genes that carry causative mutations in a variety of cognitive disorders that have an important medical and socio-economical impact to our society; in particular mental retardation (intellectual disability), autism and neural migration disorders. The identified "disease" genes have crucial functions in development and maintenance of the brain and in basic molecular pathways in learning and memory. We use such genes as a starting point to resolve the role of the corresponding proteins in the normal and diseased brain. To that end, we follow a multi-level strategy that besides neurogenetics includes functional genomics which encompasses the generation and characterization of model organisms (mouse, rat andDrosophila) and molecular & cellular neurobiology to dissect molecular and cellular mechanisms that are key to learning and memory. Our strategy aims to reveal novel neurobiological concepts by resolving the genetic and epigenetic networks that are disrupted in cognitive disorders. At the same time, we generate new opportunities for diagnostics and ultimately treatment of patients with a cognitive dysfunction. In other words, we adhere to a true translational research approach starting from patients to clinical and molecular genetics to genes to molecular and cellular networks to model organisms and back again to humans.

More details about my research can be found at the Human Genetics website.

Jo Huiqing Zhou: Human Genetics Department Radboud University Nijmegen Medical Centre

Dr. Jo Huiqing Zhou obtained her Ph. D in Hong Kong University of Science & Technology. For her postdoc training, she joined Prof. Henk Stunnenberg’s lab to pursue her research interest in epigenetics and functional genomics. In recent years, she has implemented and employed functional genomics approaches to annotate the role of p63 in relevant diseases in the Human Genetics Department Radboud University Nijmegen Medical Centre. Currently she is an independent principle investigator in Molecular Developmental Biology, Radboud University Nijmegen and in the Human Genetics Department in Radboud University Nijmegen Medical Centre. Her research interest is to identify regulatory gene networks and epigenetic mechanisms in developmental disorders using disease models established from patient material such as keratinocytes and induced pluripotent stem cells. Taking the advantage of state-of-the-art functional genomics technology, her group has mapped the genome-wide atlas of disease-associated regulatory elements controlled by p63 beyond the coding regions, and is using this atlas to identify genetic basis of ectodermal-related disorders. Another line of Dr. Zhou’s research team is epigenetic and genetic regulation in neuronal-related diseases. The ambition of her research is to gain insight into the molecular mechanisms of developmental disorders to improve diagnostics and genetic counseling and to explore the potential intervention of diseases.