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autistic disorder

An international consortium has identified rare copy number variants that are more common in individuals on the autism spectrum.

While using stem cells allows Stemina to "make the tissue type of interest. It's an all-human system," and allows the firm to build "the best potential in vitro environment to study a particular question," its CEO said.

The Toronto hospital for children will use the funding to perform genomic sequencing research on autism spectrum disorder patients in order to develop new screening and diagnostic tools.

Part of the autism advocacy organization's latest round of funding will support research aimed at developing protein biomarkers and better animal models.

Three grant types will support clinical, basic, and applied research using genomic and pharmacogenomic approaches, among others.

The company plans to develop and sell an autism risk test for children with older siblings who have already been diagnosed.

According to the grant abstracts, the project is "an unprecedented partnership" between two large-scale sequencing centers — at Baylor College of Medicine and at the Broad Institute — and a network of research labs focused on the genetics of autism, brought together by the Autism Genome Project and the Autism Consortium.

All three projects plan to use high-throughput sequencing to identify variants associated with autism or autism spectrum disorder.

Moving Target: CNVs in Disease

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More and more research is linking CNVs to disease. It's not only changing the way scientists study disease, but also how clinicians diagnose it.

New genetic studies suggest that SNPs and CNVs affecting neuronal cell adhesion — including one SNP that reached genome-wide significance in a large GWAS study — contribute to autism risk.

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Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.

St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.

St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.

In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.