Methods and compositions for screening and treating developmental disorders
AssigneeThe Hospital for Sick Children
InventorStephen Scherer
Life of this patent
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Abstract
This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.
Claims24
1-211. (canceled)
A method comprising:
- (a) (i) hybridizing a nucleic acid probe to a polynucleic acid from a human subject, or
- (ii) synthesizing a nucleic acid product from a polynucleic acid from a human subject,
- wherein the human subject has a disease associated with a developmental disorder selected from the group consisting of Autism Spectrum Disorder (ASD), Asperger Syndrome, Rett Syndrome, and Childhood Disintegrative Disorder;
- and
- (b) detecting one or more genetic variations in the polynucleic acid by PCR, sequencing, nucleic acid hybridization, microarray analysis or northern blot or a combination thereof,
- wherein the one or more genetic variations occur in one or more genes that encode a protein associated with synapse biology in the subject, and wherein the one or more genetic variations has an odds ratio (OR) of 3 or more.
A kit comprising reagents for hybridizing a nucleic acid probe to a polynucleic acid from a human subject and detecting one or more genetic variations in the polynucleic acid in the human subject, wherein the one or more genetic variations occur in one or more genes that encode a synaptic membrane protein in the subject, and wherein the one or more genetic variations has an odds ratio (OR) of 3 or more.
Dependencies are inferred from the claim text.