Working together to build a better world for people with rare diseases

Roche in rare diseases


Although individual diseases are rare, collectively, rare diseases are anything but – there are 7,000 different rare diseases and more than 400 million people suffering from them globally. Very few have an approved treatment available.

For those living with a rare disease, the impact is felt every day of a person's life. And although children make up around half of all those diagnosed, living with a rare disease requires life-long, often complex and challenging management.

But the number of people who feel the impact of rare diseases is even greater still. Because many rare diseases are genetic, it affects entire generations of families, many of whom become caregivers and advocates.

Research into better treatments, valuable therapies and more precise diagnosis will make a difference. Working side by side with the patient community at every step of the journey will change the definition of what it means to live with a rare disease.

We develop innovative medicines that transform lives by changing medical practice, pursuing first or best-in-class medicines, and focusing on cutting edge research and development (R&D) and new technologies.

Rare diseases are not rare

Find out what makes a rare disease rare and who is affected.

The evolution of clinical trials

Nowadays, clinical trials are highly structured and regulated, ensuring the safety of the participants, but this hasn't always been the case.

Innovative and impactful solutions


All across the spectrum of research and development, we’re following the science to make breakthrough innovations that can transform patients’ lives. We are focusing our efforts on diseases where we believe we can make the biggest and most valuable difference to people’s lives based on our understanding of biology, and where there is the greatest need.

We develop innovative medicines and better diagnostics by exploring new ways to approach treatment. By changing medical practice, pursuing first or best-in-class medicines, focusing on cutting edge research and development and utilising new digital health technologies, we are helping to reshape the landscape of what it means to live with a rare disease.

Explore some examples of our efforts across a number of rare diseases

We are focused on harnessing science to transform lives and help improve the provision of treatments for those who need it most.

We have been working in partnership with the SMA community to transform outcomes for a broad range of people living with the rare, neurological condition.

With the Huntington’s community, we are moving forward with larger studies on an investigational treatment for this hereditary, progressive brain disease that has a devastating impact across generations.

We’ve currently conducted innovative research to investigate future treatments for NMOSD and other autoimmune central nervous system diseases.

Collaboration and partnership in rare diseases


In rare disease, more than any other, we rely on close collaborations and co-creation with experts from the community from start to finish. Partnerships and trust with the rare disease community is paramount to our collective success. We are working with people with rare diseases at every stage to understand what is most meaningful to them so we can design our clinical trials and medicines with this in mind.

This dedication to partnership also extends beyond the patient community and into the scientific landscape. We recognise the value of external innovation and are dedicated to partnering with leading research and digital health companies to bring these to as many patients as possible.

By working together, we can build a better world for people with rare diseases.

We take the trust of the rare disease community seriously, and are working with patient organisations and people with rare diseases at every stage to understand what is most meaningful to them. That’s why 90% of our development programmes have input from patient partners – and our goal is to make that 100%.
Paulo Fontoura, Global Head Neuroscience Clinical Development at Roche

Focus on a brighter future


To bring better therapies and diagnosis to people living with rare diseases, the approach to research, innovation and disease-management must also be redefined. New understandings of clinical endpoints have already altered the way clinical trials are developed and conducted. Precision medicine and innovations in science are also changing the fundamentals of how rare diseases are treated and managed. By focusing on what is truly valued by people living with rare disease, we can together develop solutions that better serve the community.

Related links


Research and clinical trials

Find out how we determine whether new drugs, diagnostics or procedures in the laboratory are both safe and effective when used to diagnose or treat people.


Patient partners

To do our best for patients, we need to work with them. Learn more about the importance of patient partnerships in shaping the future of healthcare.

Roche in neuroscience

With one of the strongest pipelines in the industry, we are researching and developing medicines for a range of serious neurological diseases to find better treatments.