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Envisagenics Wins $1.5M NIH Grant to Advance Alternative Splicing Analysis Tech

NEW YORK (GenomeWeb) – Envisagenics announced today that it has been awarded a $1.5 million Phase II Small Business Innovation Research (SBIR) grant from the National Institutes of Health to further develop its cloud-based platform that detects, quantifies, and interprets alternative splicing (AS) errors from RNA sequencing data for drug discovery.

Called SpliceCore, the platform comprises three proprietary algorithms: SpliceTrap, which detects AS profiles; SpliceDuo, which identifies significant AS variations; and SpliceImpacts2, which prioritizes biologically relevant AS events with therapeutic potential. 

In 2015, Envisagenics — which was spun out of Cold Spring Harbor Laboratory (CSHL) in 2014 — was awarded a $225,000 Phase I SBIR grant to develop a SpliceCore prototype. The company said it has since deployed SpliceCore's back-end on the platforms of three cloud service providers; increased its overall run-time by a factor of 12; developed tools to discover disease-specific AS isoforms; finalized and tested a machine-learning algorithm to predict the biological impact of AS; and experimentally validated new predictions with a success rate of nearly 83 percent.

Envisagenics said it intends to use the latest two-year grant to expand the platform's knowledgebase and predictive functions with novel AS isoforms extracted from roughly 37,000 public datasets. The work will be conducted in collaboration with researchers from CSHL and Rockefeller University.

"The discovery of disease-causing proteins [from AS events] was at the center of pharma innovation for decades, but the new century brought us not only better knowledge of genetic information but also the computer power to interpret it," Envisagenics Cofounder and Chief Technology Officer Martin Akerman said in a statement. "The RNA splicing treatments that we develop target the flow of genetic information, so disease-causing proteins cannot be formed in the first place."

In November, Envisagenics closed a $2.4 million round of seed financing.