Senior moderator Leigh Hart explores the role of pharmaceutical companies in the Rare Disease Networks, what was planned and how it has worked out.
Rare diseases are far from rare. An estimated 300 to 400 million people live with one, yet their needs are often invisible to health systems, researchers, and the medical sciences industry.
These conditions aren’t just “rare” because of low prevalence. What truly defines them is their marginalisation: the lack of attention, infrastructure, and investment. With over 7,000 known rare diseases, most remain overlooked simply because they don’t rank among the top causes of death or disability.
This invisibility creates a dual challenge. First, diagnosis is painfully slow, averaging six years, due to limited awareness and a shortage of reliable tests. Second, even after a diagnosis, patients often find limited viable treatment options, largely because small populations and scattered data make research and trials difficult to scale.
But this is changing. Rare diseases are gaining visibility, not just as a health equity issue, but as a strategic frontier in biomedical innovation. In an era where traditional “blockbuster” drugs are on the decline, rare diseases offer a new model: targeted, high-value, precision therapies developed with patient insight and cross-sector collaboration.
Why Networks Were Needed
By the late 1980s, it became clear that traditional drug development pathways were not going to work for rare diseases. Fragmentation, low awareness, and a lack of market incentives meant that progress would only come through partnerships among patients, advocates, researchers, health providers, and industry.
Rare disease networks emerged as the solution. They provide a way to break silos, coordinate fragmented resources, and fast-track innovation by sharing data, expertise, and lived experience.
Regional Milestones in Rare Disease Networks
· United States: The founding of the National Organization for Rare Disorders (NORD) in 1983 was a watershed moment. Around the same time, advocacy efforts drove passage of the Orphan Drug Act, which provided market exclusivity, tax credits, and funding incentives for rare disease research. This officially recognised rare diseases as both an unmet need and an economic opportunity.
· United Kingdom: In the UK, momentum grew as part of wider NHS reforms. Groups like Genetic Alliance UK helped shape the 2013 UK Rare Diseases Strategy, which created frameworks for collaboration between government, academia, and industry to support the estimated 3.5 million Britons living with rare conditions.
· Europe: The launch of Rare Diseases Europe (EURODIS) in 1997 unified hundreds of patient organisations across the continent. It played a key role in driving the EU Orphan Drug Regulation (2000) and the creation of European Reference Networks (ERNs), which are cross-border initiatives that share expertise and improve care delivery.
· Elsewhere: Japan actually led early rare disease development, with national initiatives in place since the 1970s. South American countries followed the lead of the U.S/UK/EU in the 2010s. China and India launched rare disease programs in the early 2020s. Most recently, the May 2025 WHA side event “Milestones & Momentum in Rare Diseases” signalled growing global commitment, with a 2025 to 2035 Global Action Plan on rare diseases now on the horizon.
The Pharmaceutical Industry’s Role in Rare Disease Networks
From the beginning, it was clear that pharma had to be a major player in rare disease networks. Early policies were designed to draw pharma into a space where standard return-on-investment models did not apply. In exchange for such considerations as tax incentives, prolonged exclusivity and streamlined regulatory approval, Pharma was anticipated to:
- Drive innovation in diagnostics and treatments
- Engage with patient groups and advocacy networks
- Navigate regulatory and reimbursement pathways
- Support data sharing, registries, and clinical trial infrastructure
- Co-create solutions with patients and clinicians
Some of this happened. Much of it did not.
Most large companies — including Pfizer, Novartis, Sanofi, AstraZeneca — have launched rare disease divisions. These groups focus on high-impact therapies that do not require large sales teams, making them attractive amid rising generic competition.
However, enthusiasm for early-stage R&D into rare diseases has declined. Rather than lead development, many large firms now seemingly wait until promising therapies emerge from universities, start ups, or advocacy-led initiatives. Pharma’s support is more likely to take the form of targeted funding, logistics support or late-stage partnerships. They typically get closely engaged only when therapeutic value has been demonstrated and fits with their existing portfolio.
Early Wins: Proof of Concept
Despite uneven execution, rare disease networks and pharma collaborations have delivered:
✅ Over 600 orphan drug approvals by the FDA since 1983. These include treatments for conditions once considered untreatable.
✅ Patient-led trial design, which improves recruitment, retention, and relevance of outcomes.
✅ Dedicated rare disease divisions within major pharmaceutical companies.
✅ Robust registries and natural history studies, funded in part by industry, which support better research and clinical care.
These successes validate the model: Collaboration via patient, researcher, and pharma works. But they also show that voluntary efforts alone are not enough. Sustained impact requires deeper, more equitable partnerships that involve shared risk, shared investment, and shared authority.
What Comes Next?
This post sets the stage. Future blogs will explore:
- Where rare disease networks are thriving, and where they are falling short
- How patients, policymakers, and pharma can work together to close the remaining gaps
The question is no longer whether collaboration works, but how we scale it, sustain it, and ensure it delivers for rare disease in every part of the world.
