Our Research Approach

History
Over the past twenty-five years, the thinking in medicine, especially in neurological disorders, has focused on single-gene disorders, such as Huntington's chorea, Rett syndrome and Smith-Lemli-Opitz (SLO) syndrome, in which a single genetic abnormality produces a particular phenotype (appearance or behavior in the individual). In the various presentations (or phenotypes) of the genetic disorder, Rett syndrome, the different presentations of the disorder can be traced to variations in parts of the gene MEC-P2, which result from mutations in the gene that occur before or at the time of conception. Rett syndrome and SLO syndrome are single-gene disorders that can present with behaviors similar to those seen in autism. Consequently, the theory in the conventional approach to autism proposes that investigating how the genetic abnormality works in Rett syndrome and SLO syndrome would then facilitate our understanding of genetic mechanisms responsible for autism. This research approach looks to pare away at the rings of the onion until the more complex nature of the disorder is understood.

A recent study published in the New England Journal of Medicine employed this approach. The article published in January 2008 reported that an abnormality on Chromosome 16 is present in 1% of the cases of autism. Although the protein produced by this gene, as well as its role in brain development and many other important factors, such as whether the mutation on Chromosome 16 is associated with other neurodevelopmental disorders are still unknown, the finding made the national news for several days. While the findings in this study are valuable, they also demonstrate that the conventional approach to research may not be sufficient when considering the complex nature of disorders such as autism, schizophrenia and ADHD, where multiple genes have been implicated.