GenEndeavor LLC — Department of Health and Human Services SBIR Phase I: 102

Description

DESCRIPTION provided by applicant The long term objective of this application is to develop novel products for routine point of care POC genetic testing ranging from early cancer detection to pathogen identification by using an innovative biotechnology called Isothermal Chain Reaction ICR ICR is a disruptive and enabling technology platform that will offer a new class of reagents relevant to biomedical research and medical healthcare ICR does not require any enzymes primers nucleotides master mixes extension reactions cDNA intermediates or thermocycling These benefits overcome constraints of PCR based technologies by being resistant to enzyme inhibitors found in laboratory samples and clinical specimens having higher specificity for rare mutations and lowering reagent costs ICR is anticipated to enable selective rapid and affordable biomarker detection without having to invest in costly instruments and labor intensive sample preparation procedures The envisioned products will be assays panels and kits for the early detection of genetic and infectious diseases in non laboratory settings Specific Aims Development of ICR probes to ovarian cancer SNP mutations We will design and develop ICR assays to rapidly and isothermally detect SNPs that are associated with ovarian cancer mutations ICR assays that can specifically identify a rare one in a million SNP mutation from a mixed population of templates in less than minutes under isothermal conditions without enzymes primers nucleotides or master mixes will be selected for use in Specific Aim Identification of somatic SNP mutations in ovarian cancer tumors We will use selected ICR assays from Specific Aim to identify SNP mutations in DNA isolated from retrospective specimens of ovarian cancer patients We will determine the percentage of ovarian cancers that are detectable by ICR using our biomarker assays ICR results will be benchmarked and compared to next generation sequencing to demonstrate the feasibility of using ICR for routine screening and early detection of cancer SNP biomarkers Impact Accomplishing the Specific Aims could significantly impact early detection of ovarian cancer when therapeutic interventions are much more effective and enable routine clinical testing and screening of the disease to improve clinical triage decisions routine monitoring and treatment outcomes PUBLIC HEALTH RELEVANCE The relevance of this project is to demonstrate the feasibility of early identification of somatic SNP mutations associated with ovarian cancers using a novel isothermal nucleic acid amplification technology The methods assays panels and reagents used in this project relate to enabling routine early ovarian cancer screening and risk stratification in point of care settings in a rapid selective cost effective and easy to use manner under isothermal conditions