NICHD-California Birth Defects Study

NICHD-加州出生缺陷研究

• 批准号: 10459129
• 负责人: James Mills
• 金额: $ 16.16万
• 依托单位: EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10459129
• 关键词: Affect; Authorization documentation; Birth; Blood; California; Cardiac; Collaborations; Congenital Abnormality; Congenital Heart Defects; Contracts; Copy Number Polymorphism; Coronavirus; DNA; DNA analysis; Data; Defect; Etiology; Funding; Future; Genetic; Genome; Grant; Health; Individual; Investigation; Iowa; Laboratories; Laboratory Study; Link; Minnesota; National Institute of Child Health and Human Development; Neonatal Screening; New York; Pancreas; Paper; Population; Process; Records; Registries; Reporting; Residual state; Sampling; Source; Spottings; System; Universities; Work; cell motility; design; exome; exome sequencing; genetic risk factor; genetic testing; genetic variant; interest; malformation; pandemic disease; screening program; sociodemographics

We have expanded our collaboration with The California Department of Health to include Stanford University, the New York State Department of Health and the University of Iowa. This study has grown since additional funding has become available to include other rare, cardiac and non-cardiac defects. Because of the very large number of births in California, we have been able to identify cases of very rare defects for investigation. Because of our work in New York State, we also should be able to identify subjects from NY to verify findings from our investigations in California. We have been granted permission to use the residual blood spots from newborn screening. We have identified cases with rare defects of interest. Vital records data and samples have been acquired and sent to the study laboratory for whole exome sequencing. There as been a serious delay in the sequencing because the laboratory at the University of Minnesota was shut down due to the corona virus pandemic. Now the laboratory is moving forward again and many samples have been whole exome sequenced. Under our task order contract the geneticists at the University of Minnesota are cleaning, editing and performing the initial analysis of the whole exome sequencing data. Results for the first defects are now being analyzed at NICHD. Because some of these defects are extremely rare, we have an almost unique opportunity to obtain cases. Although filter paper is not the ideal source of DNA for analysis, a majority of the samples, including some older samples, are producing excellent results in the whole exome sequencing process.

我们已经扩大了与加利福尼亚卫生部的合作，包括斯坦福大学，纽约州卫生系和爱荷华大学。 这项研究不断增长，因为额外的资金已获得，包括其他罕见，心脏和非心脏缺陷。 由于加利福尼亚州的分娩数量很大，我们已经能够识别出非常罕见的调查缺陷病例。 由于我们在纽约州的工作，我们还应该能够从纽约州识别受试者，从我们在加利福尼亚州的调查中验证发现。 我们被允许使用新生儿筛查中的残留血点。 我们已经确定了罕见缺陷的病例。 重要记录数据和样本已被获取并发送到研究实验室进行整个外显子组测序。 测序的严重延迟是因为明尼苏达大学的实验室因电晕病毒大流行而被关闭。 现在，实验室再次向前发展，许多样品已被整个外显子组测序。 根据我们的任务订单合同，明尼苏达大学的遗传学家正在清洁，编辑和对整个外显子组测序数据进行初步分析。 现在，NICHD正在分析第一个缺陷的结果。 由于其中一些缺陷极为罕见，因此我们有几乎独特的机会来获取病例。尽管滤纸不是分析DNA的理想来源，但包括一些较旧样品在内的大多数样品在整个外显子组测序过程中都产生了出色的结果。