Several genes have been identified that contribute to the risk of developing autism spectrum disorders. Studies of infants at high risk (‘baby siblings’ of children with autism) have yielded exciting new findings about the earliest signs of the disorder, raising the hope that children could be diagnosed and therefore treated at an earlier age.

Under the leadership of Lonnie Zwaigenbaum, scientists across North America who focus on genetics and early detection in autism are planning to establish the first databank, or ‘biorepository,’ containing rich behavioral information and genetic material from families of children with the disorder. By bringing together detailed information about early development and outcomes in large groups of baby siblings, and genetic analyses, efforts to develop gene-based early detection tools may be accelerated. Indeed, if genetic biomarkers could be used to help predict which infants are most likely to develop autism, this could revolutionize opportunities for earlier diagnosis and treatment.

Once the biorepository is created, the researchers plan to conduct genetic analyses using state-of-the-art microarray techniques to detect potential causative genetic variants, and then assess whether these variants are informative for early diagnosis. Once the initial analyses are completed, the biorepository may be made available to the broader scientific community.

The development of genetic testing strategies based on these discoveries has the potential to transform clinical practice and ultimately increase the quality of life for the many individuals and families affected by autism. What’s more, the biorepository is expected to provide an invaluable long-term resource to the scientific community and lead to further understanding of the biological mechanisms underlying early expression of the disorder.