Rare Diseases

A Global Perspective

Rare diseases collectively represent one of the most significant challenges in modern medicine. While individually uncommon, these approximately 7,000 known conditions affect an estimated 300 million people worldwide, with nearly 30 million Americans living with a rare disease.

This report examines the complex landscape of rare diseases, from the fundamental difficulties in diagnosis and treatment to the revolutionary technologies offering hope for patients and families.
The journey for rare disease patients is marked by profound challenges: an average diagnostic odyssey lasting five to seven years, limited treatment options with only about 5% of rare diseases having FDA-approved therapies, and astronomical costs that can exceed millions of dollars annually.

Yet, we stand at an unprecedented moment of scientific breakthrough, where technologies like CRISPR gene editing, RNA-based therapeutics, and artificial intelligence are transforming what was once impossible into reality.

This comprehensive overview explores both the remarkable success stories—from spinal muscular atrophy treatments that have saved countless infants to CRISPR-based cures for sickle cell disease—and the sobering failures that remind us of the work ahead.

The book concludes with actionable recommendations for the United States to strengthen its response to rare diseases and a vision for the future where every patient, regardless of how rare their condition, has access to accurate diagnosis, effective treatment, and compassionate care.