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Rare Diseases Q1 2023

Changing the narrative for people living with a rare disease

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Cameron Fox

Health Innovation Lead, Shaping the Future of Health and Healthcare, World Economic Forum

Have you ever heard of Aarskog Syndrome? How about Abetalipoproteinemia? Probably not. As with all rare diseases, they occur in less than 0.05% of the world population.

If we add up the total prevalence for all rare diseases, a very different picture emerges. Globally, an estimated 400-475 million people live with a rare disease, most of whom will never be diagnosed.

This lack of attention brings with it a range of unique challenges that deeply impact the lives of millions of patients across the world.

Unique challenges

For people living with rare diseases, the first hurdle is finding a proper diagnosis. There are over 7,000 rare diseases recognised, so the odds a doctor has seen a particular set of symptoms are slim.

Moreover, health data is often siloed, which can prevent medical professionals from accessing the information they need in time. Because of this, diagnoses take seven years on average in the United States and much longer in less developed nations.

Unfortunately, identifying the problem is only the start. Just as diagnosis is difficult, so is treatment, as there is little monetary incentive for developing drugs for such a small patient pool. As a result, more than 95% of rare diseases do not have an available treatment.

Since an estimated 50-75% of rare diseases begin in childhood, this lack of treatment options is a key driver of mortality among children. In fact, one-third of children with a rare disease die before their fifth birthday.

Rare diseases put a huge burden on health systems – according to one estimate, rare disease treatment made up 10% of the UK’s NHS total spending in 2016. In addition, individuals living with rare diseases often face stigmatisation due to the public’s lack of understanding, and this marginalisation is a key driver of growing health inequities globally.

More than 95% of rare diseases do not have an available treatment.

Positive advances

Collaborative research networks are improving data and resource sharing, and development of common standards and protocols is reducing the average time to a diagnosis. Advances in genomics and precision medicine are enabling researchers to better understand the underlying causes of many rare diseases and to develop targeted therapies.

Notable efforts are also being made when it comes to financing rare disease treatment. Research on ‘orphan drugs’ — which would not be profitable to produce without government assistance — are now subsidised in jurisdictions including the US, EU and Japan. Work is also ongoing to understand how novel gene therapies can be delivered to people everywhere at affordable prices.

Patient advocates are increasingly making their voices heard — both as participants in clinical trials and as partners in the research process — helping highlight and counter stigmatisation and other pressing challenges people living with rare diseases face.   While this progress is encouraging, much remains to be done. Improving our understanding and the way we support those living with rare diseases are crucial to countering health inequity and improving the lives of millions across the world.

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