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Autism spectrum disorder is a group of conditions characterized by: 1) Abnormal social interaction 2) Problems in communication 3) Repetitive and stereotyped behaviors Clinically ASD are very heterogeneous ASD are in large parte genetic conditions but many ASD-genes are not identified yet Whole exome and whole genome analysis accelerated discoveries The progress of sequencing technology Sanger sequencing (1977-present) SFARI gene database 1- How can we study such heterogeneous disorders? 2- How to develop treatments? 3- How acquire confidence in very rare genetic mutations? How do you treat such a heterogeneous group of disorders? Is There A Cure For Autism? Every cell has the same DNA and therefore the same genes. But different genes need to be “on” and “off” in different types of cells. Therefore, gene expression must be regulated. liver embryo muscle bone sperm Gene expression must be regulated in several different dimensions— In time: 10 wks 6 mos 14 wks 1 day 12 mos 18 mos At different stages of the life cycle, different genes need to be on and off. © M. Halfon, 2007 In space: Paddock S.W. (2001). BioTechniques 30: 756 - 761. Each colored stripe in this fly embryo shows the expression of a different gene or set of genes. The spatial regulation of these genes allows the embryo to be divided up into different regions that will give rise to the head, the internal organs, the abdomen, etc. and in abundance: Clyde et al. (2003). Nature 426:849-853 Note how the gene whose expression is indicated in blue varies in abundance from strong expression (bold arrow) to weak (thin arrow) within its expression domain. These differences in strength of gene expression have important functional consequences. • Genetic mutations may affect protein expression • Genetic mutations may affect protein function Time window of vulnerability in fetal brain development – thalidomide example First trimester is also the vulnerable time for the maternal viral infection risk factor Rodier, 2000