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

• 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
• 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

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正在解决罕见和未确诊的 可能的紊乱。通过利用这些进步，沿着科学和临床专业知识， 未诊断疾病网络（UDN）承诺改善个人的生活及其 患有未确诊疾病的家庭为了从这一努力中受益，整个国家， 特别是美国人口的丰富和迅速增加的多样性，必须考虑到 帐户.凭借其在南佛罗里达长期卓越的临床护理和研究，大学 迈阿密是一个无与伦比的位置是一个UDN的一部分。我们建议创建临床 Site-Miami（CS-Miami）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， 特别关注南佛罗里达。南佛罗里达人口的多样性包括西班牙裔 来自加勒比（例如古巴、波多黎各和多米尼加共和国）、墨西哥、南方和 中美洲，加勒比出生的黑人，犹太人和其他来自世界各地的人。许多这些 少数民族是最近的移民，他们的原始人口是发生罕见疾病的理想选择。 由于隔离、近亲繁殖和奠基者效应而引起的疾病。我们的临床和转化科学 研究所（CTSI）是由国家共同资助的国家CTSA财团的唯一成员 少数民族健康和健康差距研究所（NIMHD）专门关注少数民族的健康问题。 代表性不足的少数民族。为了代表少数民族人口，我们是一个招聘 美国国立卫生研究院的Allofus精准医学计划的网站，再次，重点是招募>50%的 少数参与者。我们将在社区参与方面的现有专业知识基础上建立CS-Miami， 电子医疗记录，生物储存库，罕见疾病的表型描述， 他们的基本生物学特性，并获得一个大型的合作网络。具体 目标将是1）招募，招收，并从事少数民族进入CS-Miami; 2）描述罕见的 和未诊断的疾病表型; 3）通过协作分析 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， 实现我们的既定目标。

项目成果

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

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
• 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