Living with a rare disease: Why lived experience must shape research

Rare diseases are often defined by numbers and clinical perspectives, a narrative that needs re-writing. Drawing on decades of patient advocacy, two women living with the rare condition Congenital Melanocytic Naevus argue that lived experience must shape research from the outset, and discuss how genuine patient-researcher partnership transforms science, care and identity.

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Publication Details

Journal
PLoS Medicine
Published
2026-09-18
DOI
https://doi.org/10.1371/journal.pmed.1005253
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

Living with a rare disease: Why lived experience must shape research

Gemma Whyatt, Jodi Whitehouse
PLoS Medicine
Genomics and Rare Diseases
article

Living with a rare disease: Why lived experience must shape research

Gemma Whyatt, Jodi Whitehouse
article en

Abstract

Rare diseases are often defined by numbers and clinical perspectives, a narrative that needs re-writing. Drawing on decades of patient advocacy, two women living with the rare condition Congenital Melanocytic Naevus argue that lived experience must shape research from the outset, and discuss how genuine patient-researcher partnership transforms science, care and identity.

PLoS MedicineVol. 23(9)
Carter Center (US), University of Cambridge (GB)
Reduced inequalities
Openalex Percentile: Top 11%
Genomics and Rare Diseases
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