Projects

Autism spectrum disorders

With recent advances in biomedical sciences it has become evident that the majority of human diseases are of multifactorial nature involving the complex interplay of a multitude of genes acting at different levels of the genetic program. Genome-wide expression experiments, which are ideal for studying polygenic diseases, allow us to study large numbers of genes in parallel and construct genetic models of hypertension. Nevertheless the prediction of the transcriptional regulatory mechanisms underlying gene expression signatures and identification of potential transcription factors binding sites in human and higher animal models still remains a major systems biology challenge. Here, we demonstrate data integration principles by applying them to functionally related genes and proteins important in autism spectrum disorders (ASD).

The autism spectrum disorders (ASD) is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior. Current results estimate a prevalence of 6.0 per 1,000 for ASD. Of the various forms of pervasive developmental disorders, pervasive developmental disorder not otherwise specified (PDD-NOS) was the vast majority, autism was at least 1.3 per 1,000, and Asperger syndrome was about 0.3 per 1,000; the atypical forms childhood disintegrative disorder and Rett syndrome were much rarer.

The three main forms of ASD are autism, Asperger syndrome, and PDD-NOS. Autism forms the core of the autism spectrum disorders. Asperger syndrome is closest to autism in signs and likely causes; unlike autism, Asperger's has no significant delay in language development. Pervasive developmental disorder not otherwise specified (PDD-NOS) is diagnosed when the criteria are not met for a more specific disorder. Some sources also include Rett syndrome and childhood disintegrative disorder, which share several signs with autism but may have unrelated causes; other sources combine ASD with these two conditions into the pervasive developmental disorders.