Exploring minorities: The Undiagnosed Diseases Network Clinical Site of Miami

项目总结 最近在罕见和未诊断疾病方面所做的努力对受影响家庭的诊断产生了重大影响，并对科学知识作出了重大贡献。统一发展网络的主要目标之一是招募、评估和跟踪来自少数群体和服务不足人群的参与者。尽管努力增加少数群体在研究中的参与，但偏见仍然普遍存在，特别是在非裔美国人和西班牙裔人口方面。与非西班牙裔白人相比，这些服务不足的人口面临着从最近的进步中受益较少的风险。在联合糖尿病网第二阶段资助的联合糖尿病网迈阿密临床站点的愿景是加强将少数族裔人口纳入联合糖尿病网研究。南佛罗里达是美国最多元化的大都市区之一，有70%的拉美裔，他们真正代表了加勒比海和中美洲和南美洲的所有地区。在迈阿密诊所，我们已经招募了60多名参与者，按照UDN第二阶段的计划；我们的大多数参与者来自少数族裔和代表性不足的人群。到目前为止，我们在三分之一的参与者中得到了诊断，他们的评估已经完成。此外，我们已经确定了几个候选基因，并对其进行了功能鉴定。此外，我们分析了UDN范围内重复扩增的数据，并确定了解释观察到的表型的原因变异。在这项提案中，我们将继续从我们高度多样化的集水区招募和评估至少15名参与者作为UDN的一部分。我们将与新的数据管理和协调中心建立合作，并过渡到UDN的第三阶段，作为可持续的卓越诊断中心。

PROJECT SUMMARY Recent efforts in rare and undiagnosed disorders have made a major impact on the diagnosis of affected families and contributed significantly to scientific knowledge. One of the key goals of the UDN was to recruit, evaluate, and follow up with participants from minorities and underserved populations. Despite efforts to increase minority participation in research studies, biases are still prevalent, particularly with respect to African American and Hispanic populations. These underserved populations are at risk to benefit less from recent advances compared to non-Hispanic Whites. The vision of the UDN Miami Clinical Site funded during the second phase of UDN has been to enhance the inclusion of minority populations in UDN studies. South Florida is one of the most diverse metro areas in the US, with 70% Hispanics, which truly represent all regions of the Caribbean and Central and South America. At the Miami Clinical Site, we have enrolled over 60 participants, as planned during the second phase of UDN; the majority of our participants are from minorities and from underrepresented populations. Thus far we reached a diagnosis in one-third of participants whose evaluations are completed. In addition, we have identified several candidate genes, which are functionally characterized. Further, we analyzed UDN-wide data for repeat expansions and identified causative variants explaining the observed phenotype. In this proposal, we will continue to enroll and evaluate at least 15 participants from our highly diverse catchment area as part of UDN. We will establish collaboration with the new Data Management and Coordinating Center, and transition to the third phase of UDN as a sustainable diagnostic center of excellence.