Method and kit for diagnosing Autism using gene expression profiling

Abstract

This invention relates to DNA microarray technology, and more specifically to methods and kits for identifying autism and autism spectrum disorders in humans.

Description

PRIORITY[0001]This application claims the benefit under 119(e) of U.S. 60 / 789,593 filed 6 Apr. 2007.BACKGROUND[0002]1. Field of the Invention[0003]This invention relates to DNA microarray technology, and more specifically to methods and kits for identifying autism and autism spectrum disorders in humans.[0004]2. Description of the Prior Art[0005]Several publications are referenced in this application in parentheses in order to more fully describe the state of the art to which this invention pertains. Full citations for these references are found at the end of the specification. The disclosure of each of these publications is incorporated by reference herein in their entirety.[0006]The autism spectrum encompasses a set of complex multigenic developmental disorders that severely impact the development of language, non-verbal communication, and social skills, and are associated with odd, stereotyped, repetitive behavior and restricted interests. To date, diagnosis of these neurological...

AI Technical Summary

Benefits of technology

[0020]The present inventive subject matter also includes an assay for screening drugs and other agents for ability to treat autism spectrum disorder or a disease or disorder related thereto, said assay comprising the steps of: culturing an observable cellular test colony which produces a differential gene expression profile representative of an autism spectrum disorder and which has been inoculated with the drug or agent to be assayed; harvesting a cellular extract from the cellular test colony; determining the level of gene expression in the test colony; and comparing the level of gene expression in the test colony to a control level of gene expression which represents a test colony not inoculated with the drug, or to the test colony prior to inoculation with the drug or agent, wherein the ability of the drug or agent to modulate the production, stability, degradation or activity of gene expression is indicative of the drug or agent's ability to treat autism spectrum disorder.

[0021]In a preferred embodiment the Autism Spectrum Disorder is indicated upon observing statistically significant differential gene expression in 20 or more genes. In preferred assay

Problems solved by technology

To date, diagnosis of these neurologically based disorders relies predominantly upon behavioral observations often prompted by delayed speech or aberrant behavior, and there are no known genes that can serve as definitive biomarkers for the disorders.

Although the guidelines are relatively clear, the individual rater's (eg., parents, teachers, clinicians, therapists) perception of the evaluated behavior leaves much room for ambiguity.

Moreover, with the more mildly affected individuals (eg., with Asperger's Syndrome), diagnosis is often not made until well after the child starts school and, even then, the child is often diagnosed with other more common disorders (such as attention deficit disorder or learning disability) before Asperger's Syndrome is considered, which delays appropriate intervention and effective educational programming.

Although genetic linkage analyses have identified numerous candidate genes for autism [15], there is little consistent data that would support the use of any (or a combination) of these as biomarkers for ASD.

Furthermore, each candidate gene alone lends little insight into the pathophysiology of these disorders, which are believed to arise from dysregulation of multiple genes.

While studies of gene expression in brain tissue may lead to a better understanding of the mechanistic basis for ASD, it is not an appropriate target for diagnostic assays.

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