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 多个基因中存在突变，这些突变已被描述为导致肾脏疾病。目前诊断遗传性肾病的策略极其昂贵且耗时。我们的目标是开发一个全面的下一代测序面板，可以在大约两周内以低廉的价格同时测试所有目前描述的肾脏相关基因突变。目前肾脏病学领域还没有商业化的综合基因组。我们相信这种检测将大大减少疾病诊断的周转时间和成本。一旦肾脏病基因组开发出来，我们将用它来描述一大群患有不明原因慢性肾脏病的患者的基因型-表型相关性。我们将隔离 来自去鉴定的肾活检样本的 DNA，并使用这些样本对我们的面板中基因的外显子进行目标富集、扩增和标记，然后在 MiSeq 上进行测序。我们将与行业领先的测序软件包制造商 DNAStar 密切合作，开发针对临床下一代测序的检测的软件管道。完成并验证后，我们将提供该测试作为 CLIA 认证的检测方法，用于诊断遗传性肾病。

项目成果

A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies.

用于诊断遗传性肾病的定制靶向下一代测序基因组。

• 发表时间: 2016-06
• 作者: Larsen, Christopher P;Durfee, Tim;Wilson, Jon D;Beggs, Marjorie L
• 通讯作者: Beggs, Marjorie L