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 in the 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 will work closely with DNAStar, makers of an industry-leading sequencing software package, in development of a software pipeline for the assay targeted towards clinical next generation sequencing. Upon completion and validation we will offer the test as a CLIA-certified assay for the diagnosis of hereditary kidney disease.
Public Health Relevance Statement: Public Health Relevance: Next Generation Sequencing Panel Christopher Larsen, MD Mutations in over 250 genes have been identified which cause renal disease. The currently available genetic diagnosis of kidney disease is extremely costly and time consuming. We aim to develop an assay to simultaneously test for all known genetic forms of kidney disease using state-of-the-art next generation sequencing technology. We believe this assay will greatly decrease the turnaround time and cost for the diagnosis of disease.
Project Terms: Age; base; Biological Assay; Biopsy; Biopsy Specimen; Categories; Chronic; Chronic Kidney Failure; Clinical; cohort; Computer software; Correlation Studies; cost; Development; Diabetic Nephropathy; Diagnosis; Diagnostic; Disease; disease diagnosis; DNA; End stage renal failure; Etiology; Exons; Future; Gene Mutation; gene panel; Genes; Genetic; Genetic screening method; Genotype; Industry; Inherited; Injury; Kidney; Kidney Diseases; Kidney Failure; Label; Lead; Molecular Abnormality; Mutation; Nephrology; Nephrosclerosis; Nephrotic Syndrome; next generation sequencing; outcome forecast; Pathway interactions; Patients; Phase; Phenotype; Price; public health relevance; Renal Replacement Therapy; Sampling; Steroid Resistance; Technology; Testing; Time; United States; Validation; Work
