Scientists hope to define the genetic basis of anorexia nervosa, which has the highest mortality rate of any psychiatric illness. Autism spectrum disorders and schizophrenia also have been a focus of STSI’s genomics investigations.
In addition to enabling valid predictions about a specific patient’s likelihood of developing anorexia nervosa, characterizing the disorder’s genetic underpinnings may reveal new therapeutic targets for drug discovery.
Several genes have been linked to autism spectrum disorders (ASD), with one of the most intriguing being MeCP2 (methyl-CpG-binding protein 2), a very complex and multifunctional nuclear protein whose mechanism of action is not yet fully understood.
Complex interactions between genetic and environmental factors are thought to result in abnormalities in central nervous system (CNS) gene expression leading to the manifestation of schizophrenia. While global expression studies have identified alterations in the expression of genes related to myelination, synaptic transmission, metabolism and ubiquitination in the brains of individuals with schizophrenia, not all of these differences have been replicated in every study. In addition, these differences have not been integrated into a compelling and comprehensive biological context.