Skip to main content
Premium Trial:

Request an Annual Quote

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.

The Scan

Wolf Howl Responses Offer Look at Vocal Behavior-Related Selection in Dogs

In dozens of domestic dogs listening to wolf vocalizations, researchers in Communication Biology see responses varying with age, sex, reproductive status, and a breed's evolutionary distance from wolves.

Facial Imaging-Based Genetic Diagnoses Appears to Get Boost With Three-Dimensional Approach

With data for more than 1,900 individuals affected by a range of genetic conditions, researchers compared facial phenotype-based diagnoses informed by 2D or 3D images in the European Journal of Human Genetics.

Survey Suggests Multigene Cancer Panel VUS Reporting May Vary Across Genetic Counselors

Investigators surveyed dozens of genetic counselors working in clinical or laboratory settings, uncovering attitudes around VUS reporting after multigene cancer panel testing in the Journal of Genetic Counseling.

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.