Rare diseases by numbers
Today more than 10,000 rare diseases have been identified globally, with more being discovered every day thanks to the rapid technological development in genetic engineering and diagnostics.1
While many rare diseases are very uncommon, together they affect a significant proportion of the global population. An estimated 400 million people globally have a rare disease. 1,2 If everyone with a rare disease lived in one country, it would be the world’s 3rd most populous country, after China and India.
+10,000
rare diseases have been identified, with more being discovered every day.1
400 million
Although the diseases themselves are rare, rare diseases affect 400 million people worldwide.1, 2
>80% of rare diseases are caused by faulty genes, underscoring the need for effective treatment rather than preventive measures.2,3
Only 5% of rare diseases have treatments, high need for innovative therapies.2
Did you know this about rare diseases?
If all the people with a rare disease lived in one country, it would be the world's 3rd populous country.
Individually rare, collectively common. While each disease affects few people, collectively many lives are touched.
50%
of the people affected are children.3
In Europe, a rare disease is defined as one affecting fewer than five in 10,000 people. In the US, the definition of a rare disease is one that impacts less than 200,000 people.
High unmet medical need
Half of the people affected by rare diseases are children. While each disease may only affect a few people, collectively many more lives are also touched.
8 out of 10 rare diseases have a genetic origin. As a result, the body may fail to produce an essential enzyme or protein, or the immune defences may attack its own systems. Therefore, effective treatments that benefit patients are of vital importance rather than preventive measures.2,3
Despite recent advances in medicine, rare diseases continue to represent a huge unmet medical need and a significant public health challenge. Of the over 10,000 estimated rare diseases globally, only 5 per cent have approved medicines to help address them. The need for innovative treatments is therefore considerable.2
Rare challenges
The rare disease landscape presents specific scientific, medical, and commercial challenges. They range from understanding the biology of a disease, identifying molecules that can become successful treatments, developing the complex biopharmaceutical processes to manufacture a drug, designing, and running clinical trials in extremely small patient populations, obtaining regulatory approvals, negotiating pricing and reimbursement, to working with healthcare professionals and patients to ensure access for the people who need the treatment.
Our vision is to be recognised as a global leader in providing innovative medicines that transform the lives of people with rare and debilitating diseases.
Disease areas
Our therapies are concentrated within the areas of haematology, immunology and specialty care.
Stories
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References
1 National Organizations for Rare Disorders (NORD) https://rarediseases.org/understanding-rare-disease/rare-disease-facts-and-statistics/
2 National Human Genome Research Institute https://www.genome.gov/dna-day/15-ways/rare-genetic-diseases
3 Global Genes https://globalgenes.org/learn/rare-disease-facts