Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

doi:10.1002/ajmg.a.63904

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Article

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

American journal of medical genetics. Part A - 1 Feb 2025

Borja Nicholas A, Tinker Rory J, Bivona Stephanie A, Smith Carson A, Locker Theodore Krijnse, Fernandes Samuela, Phillips John A, Stoler Justin, Taylor Herman, Zuchner Stephan, Tekin Mustafa

Abstract excerpt

Rare diseases affect 6%-8% of the population and present diagnostic challenges, particularly for historically marginalized ethnic and racial groups. The Undiagnosed Diseases Network (UDN) aims to enhance diagnosis rates and research participation among such minoritized groups. A retrospective review was conducted from 2015 to 2023, analyzing 2235 UDN participants to evaluate its progress toward this objective....

Topics

Adolescent
Adult
Child
Female
Humans
Male
Middle Aged
Young Adult
Ethnicity
Hispanic or Latino
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Racial Groups

Rare Diseases

Retrospective Studies

Socioeconomic Factors

Undiagnosed Diseases

United States

White

Source

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Identifiers

PMID: 39400494
DOI: 10.1002/ajmg.a.63904
PMCID: PMC11698638

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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