Abstract
A rare disease is defined as a condition that affects fewer than 200,000 people. Yet cumulatively, rare diseases affect over 25 million individuals in the United States. Treatments for the over 7,000 rare diseases have historically lacked pharmaceutical development due to the high cost of research and potential loss of profits (Roberts & Wadhwa, 2025; Haendel et al., 2020).
References
EuroDis. (n.d.). Rare diseases in Europe. EURORDIS. https://www.eurordis.org/information-support/what-is-a-rare-disease/
Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H.,…Oprea, T. I. (2020). How many rare diseases are there? Nature Reviews Drug Discovery, 19(2), 77–78. https://doi.org/10.1038/d41573-019-00180-y
Jennings, S. V., Slee, V. M., Zack, R. M., Verstovsek, S., George, T. I., Shi, H.,…Castells, M. C. (2018). Patient perceptions in mast cell disorders. Immunology and Allergy Clinics of North America, 38(3), 505–525. https://doi.org/10.1016/j.iac.2018.04.006
Kittleson, M. M., Ruberg, F. L., Ambardekar, A. V., Brannagan, T. H., Cheng, R. K., Clarke, J. O.,…Sheikh, F. H. (2023). 2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis: A Report of the American College of Cardiology Solution Set Oversight Committee. Journal of the American College of Cardiology, 81(11), 1076–1126. https://doi.org/10.1016/j.jacc.2022.11.022
Roberts, A. D., & Wadhwa, R. (2025). Orphan drug approval laws. In StatPearls. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK572052/
Rohani-Montez, S. C., Bomberger, J., Zhang, C., Cohen, J., McKay, L., & Evans, W. R. H. (2023). Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genetics in Medicine Open, 1(1). https://doi.org/10.1016/j.gimo.2023.100808
