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

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.