From rare to routine care: could rare therapies be used to treat common conditions?
Estimated reading time: 6 minutes
With rare disease research proven to benefit common conditions, it’s no longer enough to use small patient numbers as a reason not to invest in therapies for this underserved community. Florence Cornish looks at ways in which rare investment has already served wider communities and how rare research can be an attractive proposition for industry
Each year, Formula 1 teams spend upwards of $140 million1 ensuring their cars are safe, efficient and, of course, fast. This investment may seem extravagant for just a few cars, but what if it could make a difference for everyone?
For decades now, advances in F1 have trickled down to benefit the lives of everyday road users2. From safer materials like carbon fibre, to improved fuel efficiency of the iconic London buses, these expenses have proven themselves more than worth the initial investment.
So, what if we could take the same approach to rare therapies?
The price of being rare
Collectively, rare conditions affect over 300 million people worldwide3, and yet, over 95% of them do not have a specific treatment4.
This large unmet need exists for a few reasons.
Firstly, by their very nature, each rare condition affects only a small number of people in the general population—less than 1 in 2000, to be precise5. This means that traditional approaches to drug development don’t quite fit, with patient numbers often too low to test new drugs in a standard clinical trial.
However, this limited number of patients poses another fundamental problem when it comes to developing rare therapies. That being, money.
The cost of developing a new medication is immense. This means pharmaceutical companies are often reluctant to invest in drugs with such a small potential market. Similarly, obtaining research grants and sponsorships to study rare conditions carries the same challenges, with investors simply not willing to take the risk.
I spoke to Dr Charles Steward, who has been working in genetic research for almost 30 years. He explained that even for rare conditions with a known genetic cause, there are still financial hurdles that prevent further research into finding treatments.
Charles says: “For genes where only a few people are known to be impacted, there may be no interest from industry in developing therapies.
Scientists are always looking for novelty. Once a gene [for a rare condition] is described, it is no longer novel and might not be of interest for funders.
Therefore, it might be that there is no further incentive to continue working on it.”
From track to treatment
The consequence of this lack of investment is that millions of people around the globe do not get the help they deserve. Those with rare conditions are left without treatment pathways, often with persistent or worsening symptoms that impact their daily lives6.
This evident need for a shift in our approach is supported by the Medicines and Healthcare products Regulatory Agency7, who announced last year that:
“The rulebook for rare disease therapies will be overhauled to make it quicker and easier to get these therapies tested, manufactured and approved in the UK.”
Acknowledging that rare conditions do not fit the same mold as common conditions is a vital first step. In light of this, our approaches to rare therapies should not be forced along the same tracks as common therapies, especially at the expense of patients and families.
Perhaps it’s time to look towards other industries, and to take inspiration from their approaches to progress. Is it possible that rare therapies could be like F1 technologies, and trickle down to benefit the general population? Could investing in rare research open doors for common treatments all over the world too?
Yes, is the answer. Its already happening.
Rare is worth it
A powerful example to demonstrate the value of rare research, is the discovery surrounding cholesterol and the PCSK9 gene8.
Scientists found that people with a rare genetic change in their PCSK9 gene have a natural resistance against high cholesterol. This, in effect, protects them from cholesterol related conditions such as heart disease and strokes.
Research surrounding this rare PCSK9 variant has led to the development of a new, highly effective class of drugs called PCSK9 inhibitors. These drugs are a powerful way to combat high cholesterol, which, incidentally, affects nearly 39% of adults around the globe9.
In fact, the biotechnology company Amgen reported sales of $870 million for their PCSK9 inhibitor ‘Repatha’ in the last quarter of 2025 alone10. These sales had significantly increased compared to the same time frame of 2024, attributed by the report to ‘volume growth.’ This translates to, ‘more people started using the drug.’
Still sound like rare research isn’t worth investing in?
Another key example of this would be the drug Romosozumab. Approved by the FDA in 2021, this medication is used to treat common condition osteoporosis, which affects an estimated 200 million people worldwide11.
Despite its huge global market, the origin of this drug began with research on two rare bone conditions: sclerosteosis and Van Buchem disease12. Scientists found that these conditions were caused by changes in the SOST gene, which produces a protein known as sclerostin.
Since the discovery, sclerostin has become a prime drug target for osteoporosis treatment13, leading to the development of medications, including Romosozumab, which is projected to have a $6531 million market by 203114.
What matters most
The examples above show how investing in rare research can lead to huge returns for the pharmaceutical industry.
Similar stories could also be told for advancements like immunotherapy or genetic testing—both initially used in specialised circumstances, but now have widespread impact across common conditions as well.
With this in mind, it is also important to look beyond the numbers and remember the real value of investing time and money into rare conditions research. That being, the potential to change someone’s life.
Those in the rare community have and will always deserve to receive treatment, regardless of profit. And now, we know that rare research has the potential to benefit millions of people around the world, with a wide variety of common conditions too.
With progress such as the NICE quality standard15 and support from the MHRA, the future of rare condition therapies looks bright. It is vital that we as an industry commit to improving our approach, and remember that rare conditions will always be worth investing in, in more ways than one.
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References
[1] https://www.redbull.com/gb-en/theredbulletin/what-does-a-formula-1-car-cost#:~:text=An%20F1%20team%20may%20spend,inflation)%20in%20the%202022%20season.
[2] https://www.formula1.com/en/latest/article/the-10-greatest-innovations-f1-has-given-the-world.1fY8HvHkICzpj6s353iw82
[3] https://www.rarediseasesinternational.org/living-with-a-rare-disease/
[4] https://www.genomicsengland.co.uk/blog/genomics-101-what-is-a-rare-condition
[5] https://www.genomicsengland.co.uk/blog/genomics-101-what-is-a-rare-condition
[6] https://www.eurordis.org/mental-wellbeing/
[7] https://www.gov.uk/government/news/major-change-for-rare-disease-treatments-on-way-signals-mhra
[8] https://www.sciencedirect.com/science/article/pii/S0168952525001106
[9] https://world-heart-federation.org/what-we-do/cholesterol/
[10] https://www.amgen.com/newsroom/press-releases/2026/02/amgen-reports-fourth-quarter-and-full-year-2025-financial-results
[11] https://pmc.ncbi.nlm.nih.gov/articles/PMC11677826/
[12] https://pubmed.ncbi.nlm.nih.gov/25555179/
[13] https://www.sciencedirect.com/science/article/abs/pii/S1094695021000937
[14] https://qyresearch.in/report-details/2863547
[15] https://www.nice.org.uk/news/articles/nice-publishes-first-quality-standard-to-improve-care-for-people-with-rare-diseases
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