Multi-faceted Gene Fnding

This project seeks to identify and understand the factors that contribute to the overall architecture of autism, and to understand the relationship of those genes to disorders and characteristics along the autism disorder spectrum. Using novel technology developed by Affymetrix and techniques in other laboratories participating in the Consortium, we will employ large-scale genetic analysis involving:

• Clinical Genetic Screening: in local patient population will reveal de novo abnormalities, mutations in sequence of syndromic autism genes
  
  
• Single Gene Disruptions: Chromosomal anomalies identify candidate genes at translocation breaks
  
  
• Rare, Penetrant Alleles: Homozygosity mapping in Turkey/Middle-east, high-incidence Finnish isolates to find rare mutations
  
  
• Common Alleles and Copy Number Variations: Genome-wide association studies reveal common alleles as well as de novo chromosomal abnormalities
  
  
• Regulatory Network Alterations: Gene expression studies in autistic patients
  
  
• Candidate signaling genes: Resequencing of genes from the same biochemical pathways as known autism genes will identify additional gene disruptions identifying shared biochemical processes.