SAN DIEGO, April 30, 2015 /PRNewswire/ -- Finding genetic causes of progressive supranuclear palsy (PSP) is the goal of a joint research project announced today between Cypher Genomics and the University of Pennsylvania. The research is funded by a grant from CurePSP. PSP is a neurodegenerative brain disease that affects nerve cells that control walking, balance, mobility, vision, speech, and swallowing and has no known cause, treatment, or cure.
The principle investigator for the CurePSP Genetics Consortium is Gerard D, Schellenberg, Ph.D., a professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at University of Pennsylvania.
"We are excited to collaborate with Dr. Schellenberg's research group on this large-scale project and apply Cypher's technology and our team's expertise in genome interpretation," said Ashley Van Zeeland, Ph.D., co-founder and CEO of Cypher Genomics. "We believe by working together we can accelerate the discovery of genetic variants involved in progressive supranuclear palsy."
The grant will support the collection and analysis of exome sequencing data from more than 700 PSP patients and their closely related family members. The goal of the grant is to identify possible genetic factors and biomarkers to elucidate mechanisms of disease and novel targets for future drug development. The information generated from the collaboration could also inform new diagnostics.
"This collaboration, which brings together leading expertise from Dr. Schellenberg's research group and Cypher Genomics' team, will help push our large-scale genomic study in progressive supranuclear palsy," said David Kemp, president of CurePSP.
Dr. Schellenberg's lab has made significant advancements to identify genes associated with risk or increased susceptibility to developing PSP. His lab will use Cypher Genomics' proprietary Mantis™ technology and scientific expertise to analyze whole exome sequencing data collected. An exome represents all the protein-coding genes in a genome.
"We are excited to work with the team at Cypher Genomics, a leader in the field of genome interpretation and informatics, to uncover genetic insights into progressive supranuclear palsy. A genetic understanding of PSP will help us better understand the disease to improve diagnosis and inform future drug development," said Dr. Schellenberg.
From human genome sequencing data, Cypher's Mantis technology provides rapid, automated, genome interpretation at scale to enable disease gene identification, population-based studies, diagnostic development and biomarker identification.
CurePSP is the foremost nonprofit organization dedicated to increasing awareness of devastating Prime of Life neurodegenerative diseases including progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD); funding research toward treatment, cure, and prevention; educating healthcare professionals; and providing support, information, and hope for those afflicted and their families. Learn more at http://www.curepsp.org.
About Cypher Genomics
Cypher Genomics is a leading genome informatics company offering a highly accurate, rapid and robust interpretation software solution for users of human genome sequencing. The proprietary, automated genomic interpretation platform allows clinical laboratories to tune Cypher Genomics' market leading sensitivity and specificity profiles to develop molecular tests for diagnostic and prognostic use and pharmaceutical companies to discover biomarkers from whole genome sequence data in sample sizes typical of early stage drug development studies. Through Mantis™, the genome interpretation software as a service offering, and Coral™, a biomarker discovery service, Cypher Genomics can improve health care and reduce costs by facilitating improved diagnostic accuracy and earlier interventions, optimizing therapeutic approaches and reducing adverse drug reactions. Cypher Genomics is located in San Diego, California.
SOURCE Cypher Genomics, Inc.