A Panel-Based Approach to the Diagnosis of Genetic Nephropathies Utilizing Next G

利用 Next G 诊断遗传性肾病的基于面板的方法

• 批准号: 8781824
• 负责人: Christopher P Larsen
• 金额: $ 14.34万
• 依托单位: NEPHROPATHOLOGY ASSOCIATES
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-24 至 2015-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8781824
• 关键词: Age; Biological Assay; Biopsy; Biopsy Specimen; Categories; Chronic; Chronic Kidney Failure; Clinical; Computer software; Correlation Studies; DNA; Development; Diabetic Nephropathy; Diagnosis; Diagnostic; Disease; End stage renal failure; Etiology; Exons; Future; Gene Mutation; Genes; Genetic; Genetic screening method; Genotype; Industry; Inherited; Injury; Kidney; Kidney Diseases; Kidney Failure; Label; Lead; Molecular Abnormality; Mutation; Nephrology; Nephrosclerosis; Nephrotic Syndrome; Pathway interactions; Patients; Phase; Phenotype; Price; Renal Replacement Therapy; Sampling; Steroid Resistance; Technology; Testing; Time; United States; Validation; Work; base; cohort; cost; disease diagnosis; gene panel; next generation sequencing; outcome forecast; public health relevance

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 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.

描述（由申请人提供）：目前有200多个基因中有突变，这些突变被描述为引起肾脏疾病。当前诊断遗传肾脏疾病的策略非常昂贵且耗时。我们旨在开发一个全面的下一代测序面板，可以在大约2周内以低廉的价格同时测试所有当前描述的肾脏相关基因突变。目前，肾脏科领域尚无全面的基因面板。我们认为，该测定法可以大大减少诊断疾病的周转时间和成本。一旦开发了肾脏病基因面板，我们将使用它来描述大量无法解释的慢性肾脏疾病的大量患者中的基因型 - 表型相关性。我们将孤立 来自去识别的肾脏活检样品中的DNA，并使用这些样品进行靶标富集，放大和标记我们的面板中基因外显子，然后在Miseq上进行测序。我们将与行业领先的测序软件包的制造商DNASTAR紧密合作，开发用于针对临床下一代测序的针对测定的软件管道。完成和验证后，我们将作为CLIA认证的测定法提供诊断遗传性肾脏疾病的测定。