Exploring minorities The Undiagnosed Diseases Network Clinical Site of Miami

项目总结 最近的科学技术进步正在使罕见的和未确诊的疾病 有可能出现紊乱。通过利用这些进步以及科学和临床专业知识， 未诊断疾病网络(UDN)承诺改善个人和他们的生活 受未确诊疾病影响的家庭。为了从这一努力中受益，整个国家， 尤其是必须考虑到美国人口的富裕和迅速增长的多样性 帐号。凭借其在南佛罗里达长期卓越的临床护理和研究，大学 迈阿密大学正处于无与伦比的地位，可以成为UDN的一部分。我们建议创建临床 网站-迈阿密(CS-迈阿密)，将招募、评估并提供参与者的数据 未确诊的疾病。虽然我们将向来自任何地点的所有参与者开放，但我们将 特别关注南佛罗里达州。南佛罗里达州的多样化人口包括西班牙裔 来自加勒比(如古巴、波多黎各和多米尼加共和国)、墨西哥、南方和 中美洲、加勒比海出生的黑人、犹太人和其他来自世界各地的人。其中许多 少数民族是新移民，他们的原始人口是发生罕见疾病的理想人群 由于与世隔绝、近亲交配和创始人效应导致的疾病。我们的临床和转化学 研究所(CTSI)是国家CTSA财团中唯一由国家 少数民族健康和健康差距研究所(NIMHD)专门关注 代表不足的少数族裔。为了代表少数群体，我们是招募的一员 NIHs Allfus精密医学计划的网站，再一次，重点是招募&gt；50% 少数族裔参与者。我们将在社区参与的现有专业知识的基础上建立CS-迈阿密， 电子病历、生物信息库、罕见疾病的表型描述、 他们的基本生物学特征，以及进入大型协作网络的机会。特定的 目标将是1)招募、招收少数族裔，并吸引少数族裔加入CS-迈阿密；2)描述罕见的 和未诊断的疾病表型；3)通过对 标准数据。我们团队在临床评估、患者参与、 信息学、伦理学和基因组学将提供必要的监督和结构，以确保我们 实现我们宣布的目标。

PROJECT SUMMARY Recent advances in science and technology are now making tackling of rare and undiagnosed disorders possible. By utilizing these advances, along with scientific and clinical expertise, the Undiagnosed Disease Network (UDN) promises improvement in the lives of individuals and their families affected with undiagnosed disorders. To benefit from this effort, the nation as a whole, especially the rich and rapidly increasing diversity of the US population must be taken into account. With its longstanding excellence in clinical care and research in South Florida, University of Miami is in an unsurpassed position to be a part of the UDN. We propose to create the Clinical Site-Miami (CS-Miami), which will recruit, evaluate, and provide data from participants with undiagnosed disorders. While we will be open to all participants from any location, we will specifically focus on South Florida. The diverse population of South Florida includes Hispanics from the Caribbean (e.g. Cuba, Puerto Rico and the Dominican Republic), Mexico, South and Central America, Caribbean born blacks, Jews and others from all over the world. Many of these minorities are recent immigrants whose original populations are ideal for the occurrence of rare diseases due to isolation, inbreeding, and founder effects. Our Clinical and Translational Science Institute (CTSI) is the only member of the national CTSA consortium co-funded by the National Institute on Minority Health and Health Disparities (NIMHD) to specifically focus on the health of underrepresented minorities. To represent the minority populations, we are one of the recruitment sites for NIH`s AllofUs Precision Medicine Initiative, again, with a focus of enrolling >50% of minority participants. We will build CS-Miami upon existing expertise in community engagement, electronic medical records, biorepositories, phenotypic delineation of rare diseases, characterization of their underlying biology, and access to a large collaboration network. Specific aims will be to 1) recruitment, enroll, and engage minorities into CS-Miami; 2) characterize rare and undiagnosed disease phenotypes; 3) to reach a diagnosis via collaborative analysis of standard data. Our team's combined expertise in clinical assessment, patient engagement, informatics, ethics and genomics will provide the requisite oversight and structure to ensure we meet our stated goals.