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Pyrosequencing, University of Geneva Unite to Develop Down Syndrome Diagnostic

NEW YORK, Aug. 29 – Pyrosequencing and the University of Geneva have partnered to develop a diagnostic test for Down Syndrome, the company announced on Wednesday.

The molecular diagnostics business unit of Pyrosequencing will sponsor the university's research to analyze genes and develop a test based on the company's technology. Pyrosequencing said it had secured exclusive access to the intellectual property underlying the University of Geneva’s method to detect the gene.

Financial details of the agreement were not disclosed.

"A rapid, accurate and cost-effective diagnostic test for Down Syndrome has been the focus of several clinical research efforts around the world," Stylianos Antonarakis, director of the division of medical genetics at the University of Geneva, said in a statement. "We will use Pyrosequencing’s technology to develop novel diagnostic tests for this prevalent genetic disease with the ultimate goal of improving health care."

While an accurate test currently exists to screen for chromosomes linked to Down Syndrome--a condition appears in one out of 700 live births in the US each year--it is labor intensive and time consuming, according to Pyrosequencing.

On Tuesday, Pyrosequencing, based in Uppsala, Sweden, received US patents covering DNA sequencing based on real-time pyrophosphate detection.

In May, the company, which develops, manufactures, and sells DNA sequencing systems for applied genetic analysis, also  won a patent for assessing cardiovascular conditions such as myocardial infarction.

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