Nephropathology Associates, PLC — Department of Health and Human Services SBIR Phase I: DESCRIPTION (provided by applicant): There are currently mutations in over 200 genes that
Nephropathology Associates, PLC — SBIR Phase I award from Department of Health and Human Services.
- Amount
- $143,382
- Agency
- Department of Health and Human Services · National Institutes of Health
- Program / Phase
- SBIR · Phase I
- Solicitation
- PA13-234
- NAICS
- —
- Place of performance
- AR
- Period
- —
Description
DESCRIPTION (provided by applicant): There are currently mutations in over 200 genes that have been described to cause kidney disease. Current strategies for diagnosis of genetic kidney disease are extremely costly and time consuming. We aim to develop a comprehensive next generation sequencing panel that can simultaneously test for all currently described kidney- associated gene mutations at a low price within approximately 2 weeks. There are currently no comprehensive gene panels commercially available inthe field of nephrology. We believe this assay will greatly decrease turnaround time and cost for the diagnosis of disease. Once the nephrology gene panel is developed, we will use it to describe genotypic-phenotypic correlations in a large cohort of patients with unexplained chronic kidney disease. We will isolate DNA from de-identified renal biopsy samples and use these samples for target enrichment, amplification and labeling of the exons of genes in our panel followed by sequencing on a MiSeq. We