Cognitive disorders such as schizophrenia, bipolar disorder and major recurrent depression create an enormous burden on those who suffer from them as well as on their families. Moreover, these disorders affect a significant portion of the U.S. population, resulting in a staggering economic burden on the nation’s health care system. Vulnerability to these disorders tends to run in families, indicating a genetic component. However, it appears that the underlying genetics is highly complex, and years of research have made little progress in understanding the specific genes associated with these various disorders. This is beginning to change - recent advances in genomic technologies provide powerful new tools that now make it possible to confront and unravel the genetic complexity of these disorders. With these tools and technology in hand, we are now poised to better diagnose and treat schizophrenia, bipolar disorder, major depression and other cognitive disorders.
Scientists at the Stanley Institute for Cognitive Genomics are using these state-of-the-art genomics technologies to identify genetic variants contributing to these disorders. Working with collaborators in the U.S., Scotland, Pakistan and Australia they are sequencing the complete genomes or protein-coding regions of the genomes from patients or entire families suffering from these disorders. The goal of these studies is to identify genetic variants to better diagnose these disorders and ultimately lead to personalized therapy for those suffering from these devastating disorders.
Work at the Stanley Institute for Cognitive Genomics at CSHL is funded by a generous gift from Theodore and Vada Stanley and the National Institute of Mental Health.Autism
In addition to work funded through the Stanley Institute, a substantial genomics effort funded largely by the Simons Foundation is focused on autism. These CSHL scientists are developing and employing new technologies and software to scan and analyze genomes in an effort to understand the genetics of autism. Discoveries at CSHL related to variations in human genome structure have been especially revealing. For example, recent work has brought to light the previously unrecognized importance of spontaneous gene copy-number variations (CNVs) in autism. In addition, statistical analysis of the incidence of autism in families has provided evidence for a “unified theory” of autism’s genetic basis, which helps to account, among other things, for the sharp gender skew in the distribution of autism spectrum disorders. Also, work by this group has developed the first mouse model harboring one of the most common structural variations associated with autism, a deletion on chromosome 16. As this work continues, additional information concerning the genetic basis of autism as well as new phenotypic studies resulting from these innovative mouse models will illuminate our understanding of this disorder, allowing for potential improvements in diagnosis and treatment.