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NOBEL PRIZE 2026

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NIHNATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

The Undiagnosed Diseases Network Clinical Site of Miami

Active
Institution
UNIVERSITY OF MIAMI SCHOOL OF MEDICINE, FL
Principal investigator
Mustafa Tekin
Funding
$733K
Duration
2018–2028
Open portfolio

Moonbase score

Still being scored

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.

Research team

  • Mustafa TekinPI
  • Stephan ZuchnerPI

LOADING MOONBASE SCORE

NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKEU01ZNS1-SRB-W(21)diagnosticmiamiresearch initiativeundiagnosedclinical sitecontribute scientificnetwork clinicalenroll

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