Since 2002 IntegraGen has worked on identifying genes involved in autism.

As a first stage the Company focused of familial forms of autism, using IntegraGen’s proprietary technique GENOMEHIP to locate regions, loci and genes for which an association with Autism could be demonstrated. After identifying the association gene/autism, the most informative SNP-type biomarkers were selected within each gene.

Such gene-SNP/autism association was initially demonstrated individually on a  gene-by-gene basis twice, using collections from the AGRE consortium (Autism Genetic Resource Exchange).

In addition, these associations were replicated for most genes selected in related literature.

From Genes to Predictive test

A first-generation panel was created with a  4-genes. This 4-gene combination, marked by 4 SNPs, was validated on a cohort consisting of families of autistic children in North America for the purpose of establishing the predictive capacity of this association for the risk of autism in siblings in families with one child already affected.

Dr. Geraldine Dawson, now manager of scientific affairs for the parents’ association “Autism Speaks Foundation”, and Prof. Andreas Ziegler of University of Luëbeck , have presented the results of this study to the American Academy of Pediatrics in Boston on October 2008.

Thanks to the support of such parents’ associations, clinical practitioners involved in guiding affected children into care and IntegraGen’s scientific Advisory Board for autism, this will be the basis for a risk assesment  for families with autistic children on medical prescription only. The test will be conducted by a North-American partner laboratory.

What does this bring to patients, parents and their environment?

Autism is a disease affecting approximately 1 child in 150 on a worldwide scale.

Every year, approximately 50,000 children are born with autism in Europe and North America. This condition is more frequent than Down’s syndrome.

The average age for diagnosis is late in these countries (age 4 to 5) although it has been shown that early acceptance into care considerably improves the chances of an affected child to be integrated into normal educational structures.

By contributing to the early identification of some higher risk children, IntegraGen will contribute in assisting clinicians in guiding children towards early intervention. The impact of such intends to participate in obtaining the best possible cover for autistic children and their families.