The National Human Genome Research Institute (NHGRI) awarded Jumpcode Genomics Inc. a $383,748 Project Grant under the Human Genome Research program (CFDA 93.172) to develop a CRISPR-based depletion technology to enhance next-generation sequencing (NGS) accuracy for newborn screening tests. The company aims to extend its proven DEPLETEX technology to target a panel of 80 genes in newborn screening, improving the sensitivity and specificity of detecting disease-causing genetic mutations. This innovative approach seeks to resolve ambiguity in variant calling caused by pseudogenes, which currently prevent the accurate detection of up to one in seven pathogenic variants in NGS-based genetic tests. The Phase I project will focus on computational design of CRISPR guide RNAs, optimization of depletion protocols, and functional evaluation of the technology compared to long-range PCR for variant calling, with the goal of demonstrating improved accuracy in a clinical setting.
Generated 3/18/25, 4:18 AM