We’re enabling doctors to help patients earlier

Finding the undiagnosed

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Rare Diseases are our priority

Rare diseases are not rare

More rare diseases are life-threatening condition that are collectively common. In fact, 1 in 17 of us will be affected by a rare disease in our lifetime. This is comparable to common diseases such as diabetes and asthma.

Often misdiagnosed

Rare disease symptoms often develop gradually and in different organ systems. This means patients present to different doctors for seemingly independent reasons making these diseases difficult to diagnose.

Patients endure avoidable complications

On average, rare disease patients experience 3 misdiagnoses, visit 5 different doctors and wait over 4 years before receiving a diagnosis in the UK.

Rare diseases are expensive

Our commissioned health economics report found that undiagnosed rare diseases have cost the NHS in excess of £3.4 billion in the past decade.

Find out how it works
This rare disease diagnostic odyssey is expensive for the health care system and prevents timely access to treatments. Every European Union country has a Rare Disease plan

Chief Medical Officer’s Report 2016: Generation Genome

Mendelian fits into the NHS Long Term Plan and UK Strategy for Rare Diseases

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Rare Diseases Knowledge Base

We’re on a mission to improve clinical care for rare disease patients everywhere. Browse our knowledge base and learn more about rare diseases