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autistic disorder

The Southborough, Mass.-based startup is using gene-expression arrays to distinguish children with autism from those with other kinds of developmental disorders.

The technology will be used to develop blood-based tests for the early detection of autism spectrum disorders.

"If we are going to prove that we can save money" by incorporating genomics into the care of patients treated at Children's Hospital Boston, "then payors should join us as thinking partners and share in those saving," Dietrich Stephan, executive director of the hospital's Gene Partnership program, said last week at a conference focused on the reimbursement challenges surrounding personalized medicine.

RainDance said that the autism spectrum disorder panel, ASDseq, offers 92 percent design coverage across 62 genes known to be associated with autism spectrum disorders, while the XSeq panel covers 98 percent of the more than 1,000 genes on the X chromosome.

At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.

By identifying inherited, rare copy number variants specific to families affected by autism spectrum disorders, researchers have identified several biological pathways that may contribute to the disease.

While the use of sequencing in disease research for both Mendelian and complex diseases continued to advance during the year, 2010 also saw the launch of several sequencing-based diagnostic tests, as well as pharmaceutical companies entering the sequencing field and the first examples of sequencing being used to make decisions on patient treatment.

Three scientists using epigenomic approaches in innovative autism research have won $360,000 under Autism Speaks' new pilot awards.

While the findings could have implications for other common diseases, in particular neurological disorders such as autism or schizophrenia, several scientists say it is unlikely that rare mutations play an equally large role in common diseases with late onset, where natural selection has had a different effect.

Two groups recently demonstrated exome sequencing's utility for studying hypolipidemia and sporadic autism, and both research teams are now using the technique to study increasingly complex diseases.

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GenomeWeb reports that Veritas Genetics is suspending its US operations.

A Brazilian-led team of researchers reports it has generated a sugarcane genome assembly that encompasses more than 99 percent of its genome.

Certain plasma proteins could be used to gauge a person's age and whether they are aging well, according to HealthDay News.

In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.