BEVERLY, Mass. — May 21, 2019— Sage Science, a developer of products for improving sample preparation processes in life science applications, today announced the award of $1.8M from the National Human Genome Research Institute. The grant funds a two-year program to develop and commercialize a fully automated platform for its HLS-CATCH targeted DNA sample preparation process.
The HLS-CATCH method uses electrophoresis to extract intact DNA from cells into a gel matrix. The gel-embedded DNA is cleaved at specific genomic sites using Cas9 nuclease with guideRNAs. and large DNA targets (100 to 1,000 kilobases) are then be purified and collected. In this way, complex genomic phenomena such as repeat elements or structural variations can be analyzed using routine sequencing methods. Repeat elements such as pseudogenes and expansions are implicated in many inherited diseases, and structural variants are common in cancer genomes.
“We believe that we can provide a cost-effective DNA sequencing strategy to study genes that cannot be analyzed by current target enrichment methods or whole genome sequencing,” said Todd Barbera, Chief Executive Officer of Sage Science. “Using Cas9 to target and cut at specific sequences provides the flexibility to zero in on remaining dark areas of the genome, many of which are associated with disease.”
HLS-CATCH and is available as a manual method with the SageHLS system from Sage Science. Using the method, researchers and collaborators have sequenced a number of important genes including PKD1, BRCA1/2, MAPT and MHC.
