Why we should care

Caring about developing care guidelines and treatments for rare diseases

In the vast landscape of medicine, rare diseases often go unnoticed. With each individual condition affecting few people, they may seem like outliers in healthcare systems that already stretched by more common ailments. But collectively, rare diseases are far from rare — they affect over 300 million people worldwide. Behind every diagnosis is a person, a family, and a community often facing overwhelming uncertainty, isolation, and a lack of access to effective care.

Why rare disease care guidelines matter

For many rare conditions, there are no standardised care pathways or clear clinical guidelines. This leaves patients at the mercy of fragmented systems, with physicians often navigating without a map. Developing care guidelines brings structure, consistency, and evidence-based practices to conditions that have long lived in the shadows.

Care guidelines empower clinicians with actionable knowledge — even if they’ve never encountered a specific rare disease before. They reduce diagnostic odysseys, avoid harmful missteps, and ensure that patients receive coordinated, appropriate care. And for families who’ve felt invisible in the medical system, guidelines are a form of recognition: “We see you, and we know how to help.”

The urgent need for targeted treatments

Only 5% of rare diseases have approved treatments. For the remaining 95%, “best supportive care” is often the only option. That’s not just a medical gap — it’s an ethical one.

Developing treatments for rare diseases is complex, often hindered by small patient populations, limited data, and lower commercial incentives. But innovation thrives under constraint. Advances in genetics, data science, and precision medicine are making it possible to design therapies tailored to specific mutations, mechanisms, and needs.

Investment in rare disease research doesn't just benefit a niche group — it drives breakthroughs across all of medicine. Many rare diseases share biological pathways with more common conditions. By understanding the rare, we often unlock answers to the widespread.

Equity, inclusion, and the right to health

To care about rare diseases is to stand up for health equity. People living with rare diseases are often overlooked not because their conditions are unimportant, but because their voices are quieted by statistics.

Incorporating rare diseases into national health priorities, research funding, and care models isn't just a policy decision — it’s a moral imperative. Everyone, regardless of how many others share their diagnosis, deserves the right to timely diagnosis, effective treatment, and compassionate care.

Moving forward, together

Progress in rare diseases doesn’t happen in isolation. It requires collaboration between researchers, clinicians, regulators, industry, and - most importantly - patients and families. Their lived experience is not only valid but vital in shaping what meaningful care looks like.

We must move beyond the idea that rare diseases are too few to matter. Every condition, every person, every life is significant. By developing care guidelines and treatments, we do more than fill a medical gap - we affirm the dignity and value of those who have waited too long to be seen.