Exploring minorities The Undiagnosed Diseases Network Clinical Site of Miami

探索少数群体迈阿密未确诊疾病网络临床站点

基本信息

批准号：
9978858
负责人：
MUSTAFA TEKIN
金额：
$ 55万
依托单位：
UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-09-21 至 2022-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9978858
关键词：
Adult Affect African American All of Us Research Program Area Award Basic Science Biology Caribbean Hispanic Caribbean region Central America Child Clinical Clinical Research Clinical Sciences Clinical assessments Clinics and Hospitals Cloud Service Collaborations Communities Complement Computerized Medical Record Country Cuba Data Destinations Development Diagnosis Diagnostic Disease Dominican Republic Ear Enrollment Ensure Ethics Evaluation Eye Family Florida Founder Effect Funding Genetic Genomics Goals Haiti Health Health Personnel Health system Hearing High-Throughput DNA Sequencing Hispanics Immigrant Inbreeding Individual Informatics Institutes International Internet Investigation Jews Knowledge Laboratories Location Medical Mexico Minority Minority Participation Nervous system structure Network Infrastructure Not Hispanic or Latino Pain management Participant Patients Peripheral Nerves Peripheral Nervous System Diseases Phenotype Population Population Heterogeneity Populations at Risk Positioning Attribute Precision Medicine Initiative Public Hospitals Puerto Rico Rare Diseases Research Research Personnel Research Proposals Sampling Science Secure Sensory Sensory Disorders Site Societies South America Structure System Technology Translational Research Underrepresented Minority Underserved Population United States National Institutes of Health Universities Variant Vision Vulnerable Populations West Indies biobank clinical care clinical research site clinical translation cohort cost data sharing data standards disease phenotype ethnic minority population experience genomic data health disparity hearing impairment medical schools meetings member minority health neurosensory operation outreach patient engagement phenotypic data programs provider networks racial minority recruit sensory system somatosensory tool

项目摘要

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.

项目摘要科学技术的最新进展现在正在解决稀有和未诊断的问题可能的疾病。通过利用这些进步以及科学和临床专业知识，未诊断的疾病网络（UDN）有望改善个人及其生活的生活患有未诊断疾病的家庭。为了从整个国家中受益，特别是必须将美国人口的富裕和迅速增加帐户。大学在南佛罗里达州的临床护理和研究表现出色，大学迈阿密的位置无与伦比成为UDN的一部分。我们建议创建临床 Site-Miami（CS-Miami），将招募，评估和提供参与者的数据未诊断的疾病。虽然我们将向所有位置的所有参与者开放，但我们将特别关注南佛罗里达。南佛罗里达州的多样化人口包括西班牙裔来自加勒比海（例如古巴，波多黎各和多米尼加共和国），墨西哥，南部和中美洲，加勒比海出生的黑人，犹太人和来自世界各地的其他人。其中许多少数民族是最近的移民，其原始人口非常适合发生由于隔离，近交和创始人效应而引起的疾病。我们的临床和转化科学研究所（CTSI）是由国家联合资助的国家CTSA财团的唯一成员少数民族健康和健康差异研究所（NIMHD），专门关注代表性不足的少数民族。为了代表少数族裔，我们是招聘之一同样少数派参与者。我们将在社区参与方面的现有专业知识中建立CS-Miami，电子医疗记录，生物疗法，表型描述稀有疾病，表征其潜在生物学，并访问大型协作网络。具体的目的是1）招募，入学并聘请少数民族进入CS-Miami； 2）稀有特征和未诊断的疾病表型； 3）通过合作分析来诊断标准数据。我们团队在临床评估，患者参与方面的综合专业知识，信息学，道德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既定的目标。