SynapDx has licensed technology from Children's Hospital Boston that will support its aim to develop blood-based tests for the early detection of autism spectrum disorders.
The Southborough, Mass.-based startup is using gene-expression arrays to distinguish children with autism from those with other kinds of developmental disorders, Theresa Tibble, senior director of clinical market development, told BioArray News this week.
"We licensed IP for methods pertaining to the diagnosis of autism spectrum disorders via gene expression," Tibble said in an e-mail. She said that the firm is using arrays, but did not elaborate. She declined to further discuss the licensing, the firm's technology platforms, or its commercial plans.
SynapDx was founded last year and closed a Series A round of venture funding of an undisclosed amount in May 2010 from North Bridge Venture Partners, Bain Capital Ventures, and General Catalyst Partners. The company is led by President and CEO Stanley Lapidus, who previously founded next-generation sequencing firm Helicos Biosciences.
The company said in a statement that the technology licensed from Children's Hospital Boston was developed in collaboration with scientists Louis Kunkel and Isaac Kohane. Kunkel is the director of the hospital's genomics program and Kohane is the director of the informatics program. Both are listed as scientific collaborators on SynapDx's website, along with Leonard Rappaport, chief of developmental medicine at Children's Hospital Boston and a professor of pediatrics at Harvard Medical School.
SynapDx last year licensed blood-based autism detection technologies developed by another scientific collaborator, Valerie Hu, a professor of molecular biology at George Washington University.
According to SynapDx, Hu was the first to demonstrate that altered RNA expression levels could be interpreted to distinguish between ASD and normal individuals using RNA samples derived from peripheral blood. Using lymphoblastoid cell lines established from peripheral blood leukocytes available through the Autism Genetic Resource Exchange, Hu and her colleagues identified gene expression signatures that differentiate between ASD and normal twins, between affected and unaffected sibling pairs, and among individuals with different idiopathic ASD diagnoses and unaffected relatives, according to the company's website.
SynapDx also discussed a recent gene expression project undertaken by Kohane, Kunkel, and colleagues from Children's Hospital Boston. According to the firm, the researchers investigated 400 ASD cases and controls and ultimately identified a signature that has "robust classification accuracy," the firm said.
"These data suggest that differential expression of certain genes in blood cells may form the basis for an ASD biomarker," the company added.
The Children's Hospital Boston researchers discussed the study in a poster at the American Society of Human Genetics meeting in Washington, DC, last year. In the poster, they described a 245-gene prediction model that they claimed could be used to distinguish ASD cases from those with other disorders.
"Our findings suggest that changes in peripheral blood gene expression reflect those found in the ASD brain, as well as implicate the processes of neurodevelopment and immune signaling in disease," they wrote in the poster.
SynapDx said it is working to further investigate the ability of an RNA-based blood test to differentiate between patients referred for developmental concern to a specialty center. The company's goal is to "successfully distinguish between patients with ASDs versus those with other developmental disorders using gene expression in a prospective clinical study." Additional research will be conducted before this test will become widely available, it said.
Financial details of the arrangement with Children's Hospital Boston were not discussed.
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