Rare diseases are, well, rare—but their collective impact? Huge. With over 7,000 rare diseases affecting more than 30 million Americans, these conditions—many of them genetic—often lack effective treatments. Why? Drug companies chase blockbusters, leaving rare disease patients with few options. Enter: patient advocates and the FDA—the unsung heroes pushing for change.

Zoom Out

In the U.S., a rare disease is defined as one that affects fewer than 200,000 people. While each individual disease is uncommon, collectively, rare diseases impact 1 in 10 Americans—meaning they’re not so rare after all.
The real issue? 95% of rare diseases have no FDA-approved treatment.

Zoom In: Patient Advocacy Power

When big pharma doesn’t invest, patient foundations step up—funding research, driving policy change, and connecting patients to trials.

• Funding the Science: The Cystic Fibrosis Foundation fueled the development of game-changing CF drugs like Trikafta.
• Bridging the Gap: These groups link researchers with investors and biotech startups to fast-track treatments.
• Raising Awareness: Ever dumped ice water on your head? The ALS Ice Bucket Challenge raised over $115M for ALS research.

Zoom In: The FDA’s Role

Developing rare disease drugs is tricky—tiny patient populations make clinical trials a logistical nightmare. The Orphan Drug Act (1983) helps level the playing field with:

• Tax credits for clinical trial costs.
• 7 years of market exclusivity (no generic competition is allowed during this time!)
• Faster approval pathways, like the Rare Pediatric Disease Priority Review Voucher for life-saving treatments.

The result? Over 1,100 orphan drugs approved since 1983—compared to fewer than 10 before the law.

Rare Disease Day

Rare Disease Day takes place every year on the last day of February (Feb 29 in leap years—fitting for a “rare” day!). Started in 2008, it’s a global movement to raise awareness and drive action.

The Bottom Line

Rare diseases may not make daily headlines, but the tide is turning thanks to patient advocates and FDA incentives. More funding, more awareness, more treatments. Proof that even the smallest patient populations can spark big medical breakthroughs.

Learn More

Join Life Science Washington and Biotech Primer in Seattle May 20-21 for BioBasics 101 Live! Understand how genetic mutations cause rare diseases—and how biotech is fighting back. Perfect for biopharma newcomers who need to understand the basics to better interact with scientific colleagues and clients. Sign up today!