Audiological and Genetic Resource for Pediatric Hearing Research

儿科听力研究的听力学和遗传资源

• 批准号: 8012275
• 负责人: E Bryan Crenshaw
• 金额: $ 64.49万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-01-01 至 2013-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8012275
• 关键词: Address; Area; Biomedical Computing; Characteristics; Child; Childhood; Clinical; Controlled Vocabulary; Data; Data Set; Databases; Development; Effectiveness; Ensure; Environmental Risk Factor; Evaluation; Family; Genetic; Genetic Databases; Genetic Materials; Genotype; Grant; Guidelines; Healthcare; Hearing; Individual; Institution; Investigation; Maps; Medical; Modeling; Ontology; Other Genetics; Outcome; Patients; Pediatric Hospitals; Phase; Philadelphia; Policies; Policy Research; Positioning Attribute; Procedures; Process; Public Health; Research; Research Infrastructure; Research Personnel; Resources; Screening procedure; Security; Structure; Terminology; Testing; Therapeutic Intervention; United States; base; clinical application; cohort; computer infrastructure; computing resources; data modeling; early onset; genetic resource; hearing impairment; high risk; interest; literature survey; medical specialties; meetings; patient oriented; programs; quality assurance; relational database; repository; web based interface

Project Summary: The overall objective of this application is to develop an integrated biomedical-computing infrastructure incorporating audiologic, otologic and genetic patient data that will meet the needs of investigators pursuing patient-oriented pediatric hearing research. As the largest pediatric health-care network in the United States, the Children's Hospital of Philadelphia (CHOP) is uniquely positioned to develop a computational infrastructure for patient data acquired through screening and comprehensive evaluation of pediatric patients with congenital, early-onset, progressive and acquired forms of hearing loss. In the first phase of the application (R21), the overall approach required for building a biomedical-computing infrastructure will be determined. Subsequently, a proof-of-concept query of the database containing a limited critical set of data from existing audiologic and genetic databases at CHOP will be demonstrated. In the second (R33) phase of the application, we will expand the database to incorporate biomedical characteristics data and genetic material from a large patient cohort, and develop a web-based interface for scientific inquiry of the database in a manner that ensures anonymity of patient information. Relevance: Progress on many research and policy issues in pediatric hearing loss are being hampered due to insufficient biomedical computing resources. In particular, an integrated relational database of audiologic, otologic, genetic and other medical data would profoundly facilitate critical biomedical investigations that are both important to individual families and to public health and educational policy planning. By establishing such a resource, researchers and clinicians could more effectively address how underlying genetic and environmental factors influence the effectiveness and outcome of patient-directed therapies and interventions. These efforts will facilitate effective identification of pediatric patients at high risk for congenital or late onset hearing loss, directed assessment of the audiologic and otologic features of children with all forms of hearing loss, and characterization of the genetic basis for hearing loss

项目概要： 这个应用程序的总体目标是开发一个集成的生物医学计算基础设施 整合听力学、耳科和遗传学患者数据，以满足研究者的需求， 以患者为导向的儿科听力研究。作为美国最大的儿科医疗保健网络， 费城儿童医院（CHOP）具有独特的优势，可以开发一种计算 通过儿科患者的筛查和综合评估获取患者数据的基础设施 先天性、早发性、进行性和后天性听力损失。第一阶段 应用程序（R21），构建生物医学计算基础设施所需的总体方法将是 测定随后，对包含有限关键数据集的数据库进行概念验证查询， 现有的听力学和遗传学数据库中，将证明。在第二阶段（R33）， 应用程序，我们将扩大数据库，纳入生物医学特征数据和遗传 材料从一个大的病人队列，并开发一个基于网络的界面，科学查询的数据库 确保患者信息的匿名性。 相关性： 由于儿童听力损失的许多研究和政策问题的进展受到阻碍， 生物医学计算资源不足。特别是，一个集成的关系数据库的听力， 耳科、遗传和其他医学数据将极大地促进关键的生物医学研究， 这两方面对个别家庭和公共卫生及教育政策规划都很重要。通过建立 这样的资源，研究人员和临床医生可以更有效地解决潜在的遗传和 环境因素影响患者导向治疗的有效性和结果， 干预措施。这些努力将有助于有效识别先天性高风险的儿科患者。 或迟发性听力损失，直接评估儿童的听力学和耳科特征， 听力损失的类型和听力损失遗传基础的特征

项目成果

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

全基因组SNP基因分型鉴定立体纤维蛋白（Strc）基因是小儿双边感觉神经性听力障碍的主要因素。

• DOI: 10.1002/ajmg.a.34391
• 发表时间: 2012-02
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Francey, Lauren J.;Conlin, Laura K.;Kadesch, Hanna E.;Clark, Dinah;Berrodin, Donna;Sun, Yi;Glessner, Joe;Hakonarson, Hakon;Jalas, Chaim;Landau, Chaim;Spinner, Nancy B.;Kenna, Margaret;Sagi, Michal;Rehm, Heidi L.;Krantz, Ian D.
• 通讯作者: Krantz, Ian D.

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.

• DOI: 10.1002/ajmg.a.36042
• 发表时间: 2013-09
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Gallant, Emily;Francey, Lauren;Tsai, Ellen A.;Berman, Micah;Zhao, Yaru;Fetting, Heather;Kaur, Maninder;Deardorff, Matthew A.;Wilkens, Alisha;Clark, Dinah;Hakonarson, Hakon;Rehm, Heidi L.;Krantz, Ian D.
• 通讯作者: Krantz, Ian D.