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Other literature type . 2025
License: CC BY
Data sources: Datacite
ZENODO
Other literature type . 2025
License: CC BY
Data sources: Datacite
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Critical Bottlenecks in Rare Disease Research and Care: A Community Perspective

Authors: McMurry, Julie; Sizer, Alison; Allaway, Robert; Boerkoel, Cornelius; Chen, AJ; Colquitt, Jason; Cummings, James; +35 Authors

Critical Bottlenecks in Rare Disease Research and Care: A Community Perspective

Abstract

This document details an impromptu community gathering following the cancelation of an ARPA-H proposer's day for the Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program. The discussion became a powerful example of how shared commitment to improving patient outcomes can transcend institutional boundaries and administrative hurdles. This white paper synthesizes perspectives from healthcare providers, academic researchers, industry experts, registry providers, and people with lived experience to identify critical bottlenecks that must be addressed to accelerate progress in the rare disease field. Acknowledgement to the many contributors of the document are listed at the bottom. 

Keywords

Rare Diseases, team science, Patient Care, Implementation Science

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average