The Hospital for Sick Children

University of California

Mcgill University

Population Bio, Inc.

The United States Government As Represented by the Department of Veterans Affairs

Centre for Addiction and Mental Health

Stephen Scherer

Berge Minassian

Eli Hatchwell

Peggy S Eis

Antonio V Delgado-Escueta

Aparna Prasad

John B Vincent

Guy Rouleu

Guy A Rouleau

Mohammed Uddin

Apama Prasad

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.

Methods and compositions for screening and treating developmental disorders

Methods of determining the risk of ASD in an individual are provided which comprise identifying the presence of one or more genomic mutations in one or more of the genes, PTCHD1, SHANK3, NFIA, DPP6, DPP10, DYPD, GPR98, PQBP1, ZNF41 and FTSJ1.

Biomarkers for autism spectrum disorders

A method of identifying a gene or genomic mutation that is linked to causality of a neuropsychiatric disorder is provided. The method comprises identifying exons which exhibit an expression level that is at least within the 75percentile of exon expression levels within a nucleic acid-containing sample from a mammal having a neuropsychiatric disorder; comparing the sequence of each identified exon to the sequence of a corresponding exon from a healthy control to identify rare or de novo sequence mutations within the identified exon; calculating the burden of rare or de novo mutations within the exon; and determining the correlation between expression level of the identified exon and burden of de novo or rare mutations in the exon, wherein an inverse correlation indicates that the exon gene is linked to causality of the neuropsychiatric disorder.

Method of determining disease causality of genome mutations

A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.

Lafora's disease gene

A novel gene (EPM2B) that is mutated in humans and dogs with Lafora's disease is described.

Growing community of inventors

Toronto, Canada

Stephen Scherer