Rare diseases

Rare diseases have a huge impact on individuals, their families and society as a whole, yet treatments are available for only around 200 rare diseases.

Roche in rare diseases

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

Patients can be at risk of sharing too much, especially in Rare diseases. How can patient advocates support innovation but also defend patient privacy?

Chelsey spent ten years incorrectly diagnosed with MS before she was eventually diagnosed with a rare disease, NMOSD. She shares her story here.

It takes the power of partnership

With a shared dedication to bring innovative treatments to SMA patients, the SMA Foundation, PTC Therapeutics and Roche show the power of collaboration.

What it takes to be a great scientist

Roche scientist Hasani Ratni shares what he believes that to be an exceptional scientist, you have to break some rules and believe the impossible is possible.

Spinal muscular atrophy

SMA affects approximately 1 in 10,000 live births worldwide. Find out more about the condition and the role of the SMN protein.

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Bringing patient support to a rare disease

Learn how we are breaking down barriers that prevent patients from joining clinical trials for spinal muscular atrophy.

Just the other day, I realised I could open the fridge again

Conversations with people with SMA and their families

Elevating the patient voice in Huntington’s disease

How patient partnership is shaping the future of research and clinical development for Huntington’s disease.

Huntington’s disease Fact sheet

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Hunting for solutions

Find out how Roche is harnessing the latest technology to treat Huntington’s disease.

Huntington’s disease – Advancing research to improve lives

Huntington’s disease can affect entire families, and much is still unknown about this complex brain disease, but through research, we hope to change that.

Research

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.

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

We are committed to taking an innovative approach to research and development to help preserve what makes people who they are.

Rare diseases

Roche in rare diseases

Protecting patient data

A rare diagnosis

Spinal muscular atrophy (SMA)