The Undiagnosed Diseases Network Clinical Site of Miami

NIH RePORTER · NIH · U01 · $744,487 · view on reporter.nih.gov ↗

Abstract

PROJECT SUMMARY The Undiagnosed Diseases Network (UDN) is a research initiative that aims to diagnose rare and unknown conditions. However, the UDN has a low representation of minority and underserved populations, especially Hispanics and African Americans. These groups may face barriers to access and benefit from the UDN’s services. To address this gap, the UDN Miami Clinical Site, located in one of the most racially and ethnically diverse regions in the U.S., has been working to increase the inclusion and participation of individuals from these communities. The main objectives of this study are to recruit and enroll at least 40 additional participants annually; mainly from underrepresented populations, perform thorough clinical and research evaluations, and identify novel genetic and non-genetic causes that may explain their undiagnosed conditions. The study will also use a biorepository and conduct telehealth and in-person assessments using advanced medical facilities. The study aims to improve the diagnostic outcomes and reduce the disparities for minority and underserved populations in the UDN. So far, the study has achieved a diagnosis rate of 25% among the completed cases, as well as discovered several candidate genes and repeat expansions that are being validated. The study will continue to enroll and evaluate participants from Florida, which includes people from largely underrepresented groups.

Key facts

NIH application ID
10978978
Project number
2U01NS134353-06
Recipient
UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
Principal Investigator
MUSTAFA TEKIN
Activity code
U01
Funding institute
NIH
Fiscal year
2024
Award amount
$744,487
Award type
2
Project period
2018-09-21 → 2028-07-31