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

McMurry, Julie; Sizer, Alison; Allaway, Robert; Boerkoel, Cornelius; Chen, AJ; Colquitt, Jason; Cummings, James; Dutta, Autri; Fitter, Nasha; Green, Robert; Hansen, Adam; Harker, Eric; Harris, Nomi; Hovinga, Collin; Kahn, Ari; Keil, Hans; Kessler, Rodger; Lange, Lukas; Loaiza-Bonilla, Arturo; Luchkina, Natalia; Luellen, Eric; Movaghar, Arezoo; Pastinen, Tomi; Rountree, Elizabeth; Rudrapatna, Vivek; Sand, Adam; Schmolly, Katharina; Short, Patrick; Sirota, Marina; Siwo, Geoffrey; Tatonetti, Nicholas; Vidra, Natan; Vij, Farid; Volchenboum, Samuel; Walden, Anita; Walls, Ramona L.; Washington, Peter; Wenzlau, Dylan; Wenzlau, Margaret; Wheeler, Matthew; Son Rigby, Charlene; Haendel, Melissa

doi:10.5281/zenodo.14907384

Published February 28, 2025 | Version v2

Publication Open

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

1. University of North Carolina Chapel Hill
2. Growth Impact
3. Sage Bionetworks
4. University of British Columbia
5. Alamya Health
6. ELHS
7. Across Healthcare
8. Genomenon
9. CitizenHealth
10. Harvard Medical School
11. Brigham and Women's Hospital
12. Geneial
13. Ada Health
14. Lawrence Berkeley National Laboratory
15. Critical Path Institute
16. Texas Association of Community Colleges
17. Nurture Genomics, Inc.
18. DARTnet
19. ProablyGenetic
20. Cancer Treatment Centers of America
21. Peter Cohen Foundation dba EverythingALS
22. Turing Biosciences
23. Wake Forest University
24. Children's Mercy Hospitals and Clinics
25. COMBINED Brain
26. University of California, San Francisco
27. Selfi
28. Sanogenetics
29. University of Michigan
30. Cedars-Sinai Medical Center
31. Mass General Brigham
32. Stanford University
33. Citizen Health
34. University of Chicago
35. University of North Carolina at Chapel Hill
36. Guava
37. Truveta
38. GlobalGenes

Contributors

Other:

McMurry, Julie¹

1. University of North Carolina Chapel Hill

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.

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