
Automated, High-Throughput Identification of Genetic Structural Variants for Gene Editing and Undiagnosed Genetic Diseases ScreeningAward last edited on: 9/21/2022
Sponsored Program
SBIRAwarding Agency
NIH : NHGRITotal Award Amount
$1,672,598Award Phase
2Solicitation Topic Code
172Principal Investigator
Christopher TompkinsCompany Information
Phase I
Contract Number: 1R44HG011442-01Start Date: 8/4/2020 Completed: 7/31/2022
Phase I year
2020Phase I Amount
$1,088,162Public Health Relevance Statement:
PROJECT NARRATIVE Modern genomics, driven by the demands of personalized medicine, needs higher throughput, higher integrity, and improved resolution to enable the discovery of new disease drivers and in the development of safer gene therapies. Rapid, accurate, efficient characterization of structural variants and their associated risks is critical to the discovery of potential therapeutic avenues for undiagnosed and rare diseases, and to the development of engineered cellular therapies, including stem cells, CAR-T and other gene therapies leveraging gene-editing tools such as CRISPR. K-Band dGH, proposed in Automated, High-Throughput Identification of Genetic Structural Variants for Gene Editing and Undiagnosed Genetic Diseases Screening, will enable single-cell, single-experiment identification of clinically important structural variants that cannot be discovered or identified by NGS or other available methods with broad applicability in genome engineering R&D, target discovery and personalized therapy development.
Project Terms:
Algorithms; Alleles; Aneuploidy; Artificial Intelligence; automated image analysis; base; Bioinformatics; Biological Assay; Biological Markers; Biomedical Research; Cell Line; Cell Therapy; Cells; cellular engineering; Chromatids; Chromosomal Rearrangement; Chromosome Structures; Chromosomes; Clinical; Clinical assessments; clinically relevant; Clustered Regularly Interspaced Short Palindromic Repeats; Color; commercial application; comparative genomic hybridization; Complex; CRISPR screen; CRISPR therapeutics; CRISPR/Cas technology; Data; density; Detection; Development; Diagnosis; Disease; DNA; DNA Double Strand Break; DNA Repair; DNA Sequence; Double Strand Break Repair; Event; experimental study; Exposure to; Fingerprint; fluorophore; Funding; gene therapy; Genes; Genetic Diseases; Genetic Recombination; Genetic Structures; genetic variant; genome editing; Genome engineering; Genomic Hybridizations; genomic profiles; Genomics; genotoxicity; Goals; Government; high risk; Human; Image; Image Analysis; improved; In Situ Hybridization; Individual; intelligent algorithm; Knowledge; Location; Malignant Neoplasms; Maps; Marketing; Measurement; Measures; Medical; Metabolism; Methods; Modernization; new therapeutic target; Oncology; Outcome; Paint; Pattern; Pattern Recognition; personalized medicine; Pharmacologic Substance; Phase; Phenotype; Polyploidy; Population; Prevalence; Radiation; Rare Diseases; Reciprocal Translocation; reconstruction; Research; research and development; Research Personnel; Resolution; Risk; Sampling; screening; Signal Transduction; Sister Chromatid; Small Business Innovation Research Grant; Solid; stem cells; structural genomics; Structure; System; technological innovation; Technology; Testing; Therapeutic; therapeutic gene; therapeutic target; therapy development; tool; Validation; Variant; whole genome; Work
Phase II
Contract Number: 5R44HG011442-02Start Date: 8/4/2020 Completed: 7/31/2023
Phase II year
2021Phase II Amount
$584,436Public Health Relevance Statement:
PROJECT NARRATIVE Modern genomics, driven by the demands of personalized medicine, needs higher throughput, higher integrity, and improved resolution to enable the discovery of new disease drivers and in the development of safer gene therapies. Rapid, accurate, efficient characterization of structural variants and their associated risks is critical to the discovery of potential therapeutic avenues for undiagnosed and rare diseases, and to the development of engineered cellular therapies, including stem cells, CAR-T and other gene therapies leveraging gene-editing tools such as CRISPR. K-Band⢠dGH, proposed in Automated, High-Throughput Identification of Genetic Structural Variants for Gene Editing and Undiagnosed Genetic Diseases Screening, will enable single-cell, single-experiment identification of clinically important structural variants that cannot be discovered or identified by NGS or other available methods with broad applicability in genome engineering R&D, target discovery and personalized therapy development.
Project Terms: