Baylor-Johns Hopkins Center for Mendelian Genetics

尽管识别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，但其中绝大多数仍然没有在分子水平上得到解释。为此，我们将在贝勒医学院(BCM)和约翰霍普金斯大学医学院(JHUSOM)这两个美国最古老和最有成就的人类遗传学项目之间建立合作伙伴关系，以成立贝勒-霍普金斯孟德尔基因组学中心(BHCMG)。在这样做的过程中，我们将利用我们对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、基因分析和了解遗传病的生物学基础方面的专业知识而提供的协同效应。我们将迎接寻找和招募代表这些罕见疾病的样本的挑战，通过创建和利用全球同事和前受训人员网络来识别和招募数千名具有不明原因的孟德尔表型或具有在其家族中分离为孟德尔特征的未诊断疾病的患者和家庭。我们已经在我们的两个机构拥有2,000个DNA样本，并在我们在世界各地的17个合作者网络中确认了&gt；12,000个DNA样本。此外，我们还开发了利用OMIM(每天10,000次唯一点击)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努力，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，并已组建了一个专家委员会，以协助解决不可避免的ELSI问题。我们将在我们现有的高通量基因检测和测序管道的基础上，开发综合实验室工作，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动该领域的发展。最后，为了传播表型和分子信息，我们将遵循积极的数据传播计划，利用OMIM和其他基于网络的资源，以及组织每年一次的孟德尔遗传学会议，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.