The Undiagnosed Diseases Network Clinical Site of Miami

University Of Miami School Of Medicine, Coral Gables FL

Investigators

Linked publications & trials

Abstract

PROJECT SUMMARY The Undiagnosed Diseases Network (UDN) is a research initiative that aims to diagnose rare and unknown conditions. To increase access to UDN, the UDN Miami Clinical Site will recruit and enroll at least 40 additional participants annually, perform thorough clinical and research evaluations, and identify novel genetic and nongenetic 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 within 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 all regions of Florida and contribute to scientific discoveries along with diagnostic support to families with undiagnosed disorders.