HGM 2011 - Dubai, UAE

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Veronica van Heyningen


Title: From disease genes to biology via technology

One of the most profitable approaches to understanding how complex biological systems function is to explore what happens when they malfunction. Many new methods are becoming available for uncovering disease causing genes: simpler SNP arrays can be used for genome-wide association studies, autozygosity mapping as well as for identifying copy number variants are revealed by CGH arrays, while exome sequencing, soon to be followed by whole genome sequencing, uncovers possible disease mutations. Combining this much improved capacity for disease gene identification with careful phenotype analysis in patients, and with the use of a spectrum of model systems, can provide unparalleled insight into biological mechanisms. We can build up a picture not only of individual gene function, but also of gene interactions and system dynamics. Construction of Gene Regulatory Networks is possible following experimental prediction using chromatin immunoprecipitation and binding-site identification. Co-immunoprecipitation of proteins may reveal protein interaction networks. The networks identified are used to verify gene function and to predict further disease gene candidates and targets for effective therapy.

Sheikh Hamdan Bin Rashid Al Maktoum
Award for Medical Science

Human Genome Organisation

Centre for Arab Genomic Studies