Improving the Diagnostic Odyssey for Rare Disease Patients

Key Resources

(listed chronologically, beginning with the most recent)

“Addressing the Diagnostic Journey for Rare Disease Patients.” Ganesan, N., Day, D. Avalere. July 1, 2021. Available here.

“NIH Reddit ‘Ask Me Anything’ on Rare Diseases.” National Center for Advancing Translational Sciences. U.S. Department of Health and Human Services. February 25, 2021. Available here.

“Rare Disease Facts.” National Organization for Rare Disorders. 2021. Available here.

“Barriers to Rare Disease Diagnosis, Care and Treatment in the U.S.: A 30-Year Comparative Analysis.” The National Organization for Rare Disorders. November 19, 2020. Available here.

“Rare Diseases, Genomics and Public Health: An Expanding Intersection.” Khoury, M, Valdez, R. Centers for Disease Control and Prevention. February 17, 2016. Available here.

Additional Resources

(listed chronologically, beginning with the most recent)

“Charting the Path Forward for Equity in Rare Diseases.” The Rare Disease Diversity Coalition. 2021. Available here.

“Patient Stories.” The Rare Disease Diversity Coalition. 2021. Available here.

“The Future of Rare Disease R&D: Protecting Progress, Achieving Access.” FasterCures. December 7, 2020. Available here.

“Everylife Foundation Releases New Study Revealing Economic Burden of Rare Diseases in the U.S. Approached $1 Trillion in 2019.” Dornan, B. Everylife Foundation for Rare Diseases and The National Economic Burden of Rare Disease Study. February 2020. Available here.

“Orphan Drug Utilization and Pricing Patterns (2012 – 2014).” America’s Health Insurance Plans. October 21, 2016. Available here.

“How Patient-Centered Outcomes Research Helps Families with Rare Diseases.” Patient-Centered Outcomes Research Institute. February 29, 2016. Available here.

“Policymaking for Orphan Drugs and Its Challenges.” Rhee, Taeho Greg. Journal of Ethics | American Medical Association. August 1, 2015. Available here.

“Rare Diseases and Orphan Products: Accelerating Research and Development.” Field, M., Boat, T. Committee on Accelerating Rare Diseases Research and Orphan Product Development. 2010. Available here.


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