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Baylor-Johns Hopkins Center for Mendelian Genetics

贝勒-约翰霍普金斯孟德尔遗传学中心

基本信息

批准号：
8237388
负责人：
DAVID VALLE
金额：
$ 400万
依托单位：
JOHNS HOPKINS UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-12-05 至 2015-11-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8237388
关键词：
Affect Biological Clinical Communities Computer Analysis Computer software Consanguinity Copy Number Polymorphism Country DNA Data Data Analyses Data Linkages Databases Detection Diagnosis Disease Educational workshop Failure Family Gene Mutation Genes Genetic Genetic Programming Genetic Variation Genome Genomics Genotype Hand Hereditary Disease Human Human Genetics Individual Institution Laboratories Leukocytes Medical Medicine Methods Molecular Molecular Analysis Monitor Mutation Nature Online Mendelian Inheritance In Man Online Systems Patients Phenotype Production Public Domains Rare Diseases Recruitment Activity Relative (related person)Research Personnel Resources Review Committee Sampling Sequence Analysis Software Tools Technology Training Universities Variant adjudication base college disease classification exome family structure genetic analysis genome sequencing genome-wide improved medical schools meetings proband programs protein structure segregation trait web based interface web site

项目摘要

Although, the biological and medical value of identifying the genes and variants responsible for Mendelian disorders is extraordinarily high, the vast majority of these remain unexplained at the molecular level. To this end, we will create a partnership between two of the oldest and most accomplished human genetics programs in the country, those at Baylor College of Medicine (BCM) and Johns Hopkins University School of Medicine (JHUSOM), to form the Baylor-Hopkins Center for Mendelian Genomics (BHCMG). In doing so, we will take advantage of our complete access to OMIM and of the synergies afforded by combining our expertise in clinical genetics, genomic technologies, genetic analysis and understanding the biological basis of genetic disease. We will meet the challenge of finding and recruiting samples representing these rare disorders by creating and utilizing a worldwide network of colleagues and former trainees to identify and recruit thousands of patients and families with unexplained Mendelian phenotypes or with undiagnosed disease that segregates in their families as Mendelian traits. We already have >2,000 DNA samples in hand at our two institutions and have identified > 12,000 DNA samples in our network of 17 collaborators around the world. Moreover, we have developed strategies to utilize OMIM (>10, 000 unique hits/day) to flag unexplained phenotypes and recruit samples. We will further organize our efforts by building a sample and disease-tracking database that is integrated with and accessible through OMIM as well as through a BHCMG web site and have assembled a committee of experts to assist with the inevitable ELSI issues. We will build on our existing high throughput genotyping and sequencing pipelines to develop an integrated laboratory effort and we will use a committee of experts from both institutions plus outside experts to analyze the data and develop new software tools to advance the field. Finally, to disseminate the phenotypic and molecular information we will follow an aggressive plan of data dissemination using OMIM and other web-based resources as well as organizing an annual Mendelian genetics meeting open to all.

尽管鉴定导致孟德尔疾病的基因和变异的生物学和医学价值非常高，但其中绝大多数在分子水平上仍然无法解释。为此，我们将在美国两个最古老、最有成就的人类遗传学项目——贝勒医学院 (BCM) 和约翰·霍普金斯大学医学院 (JHUSOM) 之间建立合作伙伴关系，组建贝勒-霍普金斯孟德尔基因组学中心 (BHCMG)。在此过程中，我们将利用我们对 OMIM 的完全访问权以及通过结合我们在临床遗传学、基因组技术、遗传分析和了解遗传疾病的生物学基础方面的专业知识所提供的协同效应。我们将通过创建和利用由同事和前学员组成的全球网络来识别和招募数千名具有无法解释的孟德尔表型或患有在其家庭中以孟德尔特征分离的未确诊疾病的患者和家庭，从而应对寻找和招募代表这些罕见疾病的样本的挑战。我们的两家机构已掌握超过 2,000 个 DNA 样本，并在我们由世界各地 17 个合作者组成的网络中鉴定了超过 12,000 个 DNA 样本。此外，我们还制定了利用 OMIM（>10, 000 次独特点击/天）来标记无法解释的表型并招募样本的策略。我们将进一步组织我们的工作，建立一个样本和疾病跟踪数据库，该数据库与 OMIM 以及 BHCMG 网站集成并可通过该数据库访问，并组建了一个专家委员会来协助解决不可避免的 ELSI 问题。我们将在现有的高通量基因分型和测序管道的基础上开发综合实验室工作，我们将利用来自两个机构的专家委员会以及外部专家来分析数据并开发新的软件工具来推进该领域的发展。最后，为了传播表型和分子信息，我们将遵循一项积极的数据传播计划，使用 OMIM 和其他基于网络的资源，并组织向所有人开放的年度孟德尔遗传学会议。