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：
10207719
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 2023-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10207719
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 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 Groups 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 community engagement 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.

项目概要科学技术的最新进展正在解决罕见和未确诊的问题可能的疾病。通过利用这些进步以及科学和临床专业知识，未确诊疾病网络 (UDN) 有望改善个人及其生活患有未确诊疾病的家庭。为了从这项努力中受益，整个国家，特别是必须考虑到美国人口丰富且迅速增长的多样性帐户。凭借其在南佛罗里达州长期卓越的临床护理和研究，大学迈阿密大学作为 UDN 的一部分，处于无可比拟的地位。我们建议创建临床迈阿密站点（CS-迈阿密），将招募、评估参与者并提供数据未确诊的疾病。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。南佛罗里达州人口多元化，包括西班牙裔来自加勒比地区（例如古巴、波多黎各和多米尼加共和国）、墨西哥、南美和中美洲、加勒比地区出生的黑人、犹太人和来自世界各地的其他人。其中许多少数民族是新移民，其原始人口是罕见现象发生的理想场所由于隔离、近亲繁殖和创始人效应而产生的疾病。我们的临床和转化科学研究所 (CTSI) 是国家 CTSA 联合体中唯一的成员，该联合体由国家少数族裔健康与健康差异研究所 (NIMHD) 特别关注少数族裔的健康代表性不足的少数群体。为了代表少数民族人口，我们是招募对象之一 NIH 的 AllofUs 精准医学计划网站再次重点关注招募超过 50% 的患者少数民族参与者。我们将在社区参与方面的现有专业知识的基础上建立 CS-迈阿密，电子病历、生物样本库、罕见疾病的表型描述、其基础生物学的表征，以及访问大型协作网络的机会。具体的目标是 1) 招募、注册和吸引少数民族加入 CS-Miami； 2）表征稀有和未确诊的疾病表型； 3）通过协作分析得出诊断标准数据。我们的团队在临床评估、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既定的目标。

项目成果

期刊论文数量（5）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

DOI：
10.1002/mgg3.1892
发表时间：
2022-04
期刊：
Molecular genetics & genomic medicine
影响因子：
2
作者：
通讯作者：

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

SNUPN 缺陷会因 RNA 错误剪接和 ECM 失调而导致隐性肌营养不良症。

DOI：
10.1038/s41467-024-45933-5
发表时间：
2024
期刊：
Nature communications
影响因子：
16.6
作者：
Nashabat,Marwan;Nabavizadeh,Nasrinsadat;Saraçoğlu,HilalPırıl;Sarıbaş,Burak;Avcı,Şahin;Börklü,Esra;Beillard,Emmanuel;Yılmaz,Elanur;Uygur,SeyideEcesu;Kayhan,CavitKerem;Bosco,Luca;Eren,ZeynepBengi;Steindl,Katharina;Richter,Manu
通讯作者：
Richter,Manu

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

H4C5 错义变异导致神经发育表型与天使综合征重叠。

DOI：
10.1002/ajmg.a.63193
发表时间：
2023
期刊：
American journal of medical genetics. Part A
影响因子：
0
作者：
Borja,Nicholas;Borjas-Mendoza,Paulo;Bivona,Stephanie;Peart,LéShon;Gonzalez,Joanna;Johnson,BrittneyKeira;Guo,Shengru;Yusupov,Roman;UndiagnosedDiseasesNetwork;Bademci,Guney;Tekin,Mustafa
通讯作者：
Tekin,Mustafa

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.

DOI：
10.1002/ajmg.a.63556
发表时间：
2024-02
期刊：
American Journal of Medical Genetics Part A
影响因子：
2
作者：
I. Forghani;Steven H. Lang;Matthew J Rodier;Stephanie A Bivona;Alejo A. Morales;Stephan Zuchner;G. Bademci;M. Tekin
通讯作者：
I. Forghani;Steven H. Lang;Matthew J Rodier;Stephanie A Bivona;Alejo A. Morales;Stephan Zuchner;G. Bademci;M. Tekin