Baylor-Johns Hopkins Center for Mendelian Genetics

虽然，确定负责孟德尔疾病的基因和变体的生物学和医学价值非常高，但其中绝大多数仍然无法在分子水平上解释。为此，我们将在美国历史最悠久、最有成就的两个人类遗传学项目之间建立伙伴关系，即贝勒医学院和约翰霍普金斯大学医学院，组建贝勒-霍普金斯孟德尔基因组学中心（BHCMG）。在此过程中，我们将充分利用我们对OMIM的完全访问，以及通过结合我们在临床遗传学，基因组技术，遗传分析和理解遗传疾病的生物学基础方面的专业知识所提供的协同作用。我们将通过创建和利用同事和前学员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未诊断的疾病的患者和家庭，以应对寻找和招募代表这些罕见疾病的样本的挑战。我们的两个机构已经有超过2,000个DNA样本，我们在世界各地的17个合作者网络中已经确定了超过12,000个DNA样本。此外，我们已经开发了利用OMIM（>10，000个独特的点击/天）来标记无法解释的表型和招募样本的策略。我们将进一步组织我们的努力，建立一个样本和疾病跟踪数据库，与OMIM以及BHCMG网站相结合，并可通过OMIM和BHCMG网站访问，并组建了一个专家委员会，以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，开发一个综合的实验室工作，我们将使用来自两个机构的专家委员会和外部专家来分析数据，并开发新的软件工具来推进该领域。最后，为了传播表型和分子信息，我们将遵循一个积极的数据传播计划，使用OMIM和其他基于网络的资源，以及组织一个年度孟德尔遗传学会议向所有人开放。

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.