Genetics and genomics of Autism Spectrum Disorders
Autism Spectrum Disorders (ASD) are neurodevelopmental disorders with strong genetic component. Recent advances in genomic technologies have started to shed some light on the complex genetic architecture of ASD, characterized by complex interactions between highly penetrant rare variants and the background of common variation. A large number of ASD risk genes have been identified, but many more still remain to be discovered, with up to ~ 1000 genes likely to be involved. In order to broaden our knowledge of the neurobiology of ASD, to identify new genes and investigate the molecular functions shared among the large pool of implicated genes, we propose to characterize the genome of a sample of Italian families with ASD, using SNP-array and exome sequencing. Functional studies of selected candidate genes will be carried out using the Drosophila model. This will improve the molecular diagnosis and help to understand the underlying pathological molecular mechanisms.
This job comes from a partnership with Science Magazine and