Autism or Autism Spectrum Disorder (ASD) is a complex neurological disorder characterized by impairments in three behavioral areas. The first, social interaction, can include problems with non-verbal behaviors (e.g. eye contact, facial expression), difficulty with developing social relationships, and a seeming lack of desire to engage with others. Secondly, there are impairments in communication which can include absent or delayed speech and a lack of ability to sustain or be spontaneous in conversation. Thirdly, children with autism have behavior that is both repetitive and restrictive in nature (e.g. hand flapping, turning pages).
To learn more about autism, please visit Lineagen’s OpeningAutism.com website at
www.openingautism.com.
Lineagen’s Autism Research
Lineagen is leading two major research initiatives to discover genetic markers associated with autism and disorders of childhood development. Studies on identical twins have shown that autism is seventy to ninety percent genetic, but less than twenty-five percent can be explained by current medical and scientific knowledge. Since the introduction of whole-genome analysis technology, our only limitation is gaining better and broader understanding of these complex genetics through increased, appropriate application of testing and research.
University of Utah Autism Program
Lineagen is working with researchers in the University of Utah’s Department of Human Genetics on a large pedigree-based research program. In this study, more than thirty “high-risk” pedigrees participated in the program. Members of these families with and without autism participated in a study to compare their DNA and look for the differences that cause autism.
These families were originally analyzed used the Affymetrix SNP 6.0 microarray to identify areas of the DNA (known as “linkage regions”) likely to harbor a causal genetic mutation. These regions were then isolated and enriched using sequence capture technology from Roche-Nimblegen and then sequenced using Illumina’s Next Generation Genome Analyzer.
The genetic markers discovered from these studies are currently being “replicated” in a 9,000-person study at the Children’s Hospital of Philadelphia. Since these markers were discovered in families, it is important to understand if they are present in other people with autism, and this type of study is often referred to as “replication.”
The results of this program are expected to be published in the fourth-quarter of 2011/first-quarter of 2012 timeframe.
The Children’s Hospital of Philadelphia/Center for Applied Genomics
The Children’s Hospital of Philadelphia (CHOP) is a leader in autism research. In 2009, CHOP published the results of one of the largest autism studies ever performed. TIME magazine rated these discoveries as one of the top ten medical breakthroughs of 2009. These genetic markers fully doubled our understanding of the genetic basis for autism. Lineagen is sponsoring research with CHOP to develop industry leading molecular and genetic diagnostic tests based on these discoveries, and will have an exclusive license to certain of the discoveries and advances made under this sponsored research partnership.