Genes dysregulated in autism as biomarkers and targets for therapeutic pathways
OwnerDaniel H. Geschwind, Irina Voineaguinventors
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Abstract
The disclosed invention comprises methods and materials for screening cells for genetic profiles associated with autism spectrum disorders. The methods typically involve isolating a cell from an individual and then observing the expression profile of one or more genes in the cell, wherein certain expression patterns of the genes observed are associated with autism spectrum disorders.
Claims20
A method of identifying a test mammalian cell having a gene expression profile observed in individuals diagnosed with autism comprising:
- observing an expression profile of at least one gene comprising a sequence selected from the group consisting of SEQ ID NOs:
- 1-44 in the test mammalian cell;
- wherein an expression profile of a gene in the group that is at least two standard deviations from a mean expression profile of the gene in a control mammalian cell obtained from an individual not affected with autism identifies the test mammalian cell as having a gene expression profile observed in individuals diagnosed with autism.
A kit comprising:
- a container;
- a primer composition contained within said container, wherein the primer composition includes a polymerase chain reaction (PCR) primer effective in the quantitative real time analysis of the mRNA expression levels of one or more genes selected from the group consisting of SEQ ID NOs:
- 1-44;
- and
- a buffer composition.
A method of observing an effect of a compound on an expression profile of at least one gene comprising a sequence selected from the group consisting of SEQ ID NOs:
- 1-44, the method comprising the steps of:
- observing an expression profile of the at least one gene in the presence of the compound;
- and
- comparing the expression profile that is observed in the presence of the compound with the expression profile that is observed in the absence of the compound;
- so that the effect of the compound on an expression profile of the at least one gene is observed.
Dependencies are inferred from the claim text.