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Rare diseases

Posted by Alba Ruzafa

Your knowledge on rare diseases can change someone’s life

How would you define a ‘rare disease’? A disease that affects very few people, isn’t it?

In the European Union, a rare disease is ‘one that affects no more than 1 person in 2000.’ It might seem a very low rate, but in Europe alone there are approximately 30 million people living with one of over 6000 identified rare diseases. The number of affected people rises to over 300 million globally, according to a recent research published in the journal Nature.

They are not that rare after all then, are they?

Unfortunately, diagnosing a rare disease is very challenging. According to a survey of patients and caregivers in the US and UK, patients visit eight different physicians, and receive two to three misdiagnoses, taking an average of over seven years in the US, and over five in the UK, to receive an adequate diagnosis.

One of the main reasons for this diagnosis delay is the lack of knowledge and awareness of rare diseases. Of course, it is impossible for physicians to know everything about every rare disease; besides, they will not see these rare diseases in their practice very often, if ever. Nevertheless, it is crucial for them to know at least how to suspect if a patient is suffering from a particular rare condition, because despite the lack of cure for the majority of rare diseases, access to appropriate medical care could have a great impact on patients’ quality of life and extend their life expectancy.

How could clinicians increase their knowledge on rare diseases? Through medical education.

Medical education programs are a great way of raising awareness and interest in rare diseases, and they also offer a resource for physicians to improve early diagnosis and treatment of patients.

You might be asking yourself why; well, one of the most valuable advantages of medical education programs is that they are time-efficient. And what is it that physicians lack the most? Time!

These programs are built to address pre-defined learning objectives, with learners gaining specific knowledge and skills while investing a limited period of time. In addition, they are created in collaboration with top medical specialists who support the content with their expertise, enriching the program with the most important and up-to-date information. This time efficiency is what makes this education worthwhile and such a good option to increase awareness of rare diseases.

It is true that in medical education it is fairly easy to find programs on diseases with high prevalence, and that sometimes rare diseases are overlooked. However, at Springer Healthcare IME, we are convinced of the importance of developing these types of program, and we want to continue working to help raise awareness and increase interest in rare diseases among physicians.

If you are interested in knowing how we are doing, you can check out our educational sites for Fibrodysplasia ossificans progressiva, ADA-SCID, and keep an eye out for our upcoming Cerebral Adrenoleukodystrophy program. Building on this small but strong base of rare disease programs, we are determined to keep increasing the number over time, hopefully making a difference not only for clinicians but also for patients and their families.

For further information about any of our programs in rare diseases, or to discuss future grant funding opportunities, please contact us at ime@springer.com.

References

European Commission. Rare diseases: EU research on rare diseases. Available at: https://ec.europa.eu/info/research-and-innovation/research-area/health-research-and-innovation/rare-diseases_en

Nguengang Wakap S, Lambert DM, Olry A, et al. Eur J Hum Genet 2020;28:165–173.

Shire. Rare Disease Impact Report: Insights from patients and the medical community 2013. Available at: https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf