Cypher Genomics And Sequenom Announce Development Agreement
News Jan 23, 2015
Cypher Genomics, Inc., and Sequenom, Inc. have announced a development agreement for next generation noninvasive prenatal tests (NIPT). Through this agreement, Sequenom will utilize Cypher's genome interpretation technology, called Mantis™, to advance analysis of clinically-relevant fetal sub-chromosomal variants detected in maternal blood. Often not detected until after birth, sub-chromosomal variants comprise greater than 50 percent of rare chromosomal abnormalities beyond the more common aneuploidies and are associated with significant risks of morbidity and mortality.
"We are excited to announce this development agreement with Sequenom, the pioneer of noninvasive prenatal testing," said Adam Simpson, president and COO of Cypher Genomics. "We have been working closely with Sequenom to validate our automated Mantis technology to classify clinically-relevant sub-chromosomal genomic structural variations, such as copy-number variations (CNVs), in circulating fetal DNA from maternal blood samples, which may have applications in the development of a new, more comprehensive NIPT offering."
Sequencing-based NIPT has been largely focused on whole chromosome events, such as aneuploidies and trisomies. Sub-chromosomal structural variations, such as microdeletions and microduplications or CNVs, which may occur de novo, are more difficult to detect and classify but represent a larger proportion of clinically relevant abnormalities. The physical boundaries of CNVs implicated in similar diseases can vary greatly, creating a substantial challenge in accurately classifying the pathogenicity of these structural variations for use in NIPT. As an automated and scalable solution, Cypher's proprietary Mantis technology can help overcome the genomic interpretation challenge and can potentially support Sequenom's development of a next generation NIPT offering.
"Given the clinical relevance and frequency of microdeletions and microduplications in the general population, detecting and classifying sub-chromosomal genomic variations would broaden the clinical utility of our prenatal testing offerings," said Dirk van den Boom, Ph.D., chief scientific and strategy officer of Sequenom. "In our continued effort to advance pregnancy care, next generation NIPT offerings will expand the opportunity for physicians to provide parents with more comprehensive information to improve pediatric outcomes."
Dr. van den Boom concluded, "We have been impressed with the performance of Cypher's industry-leading Mantis technology in our research validation studies, and we look forward to advancing our collaboration with Cypher Genomics as we develop a next generation NIPT offering and expand into new areas outside of prenatal testing."
Researchers Discover Mutation That Appears to Protect Against Multiple Aspects of Biological AgingNews
The first genetic mutation that appears to protect against multiple aspects of biological aging in humans has been discovered in an extended family of Old Order Amish living in the vicinity of Berne, Indiana, report Northwestern Medicine scientists.READ MORE
Defects in Cell’s ‘Waste Disposal System’ Linked to Parkinson’sNews
An international study has shed new light on the genetic factors associated with Parkinson’s disease, pointing at a group of lysosomal storage disorder genes as potential major contributors to the onset and progression of this common neurodegenerative disorder.READ MORE
Mouse Model Demonstrates Potential of New Autism DrugNews
Scientists have performed a successful test of a possible new drug in a mouse model of an autism disorder. The candidate drug, largely corrected electrical, behavioral and brain abnormalities in the mice.READ MORE