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Rare Disease Day Background. Colorful awareness ribbon with group of people with rare diseases.

Rare diseases in medical education: a crucial opportunity to make a difference

Posted by Jules Morgan

As an independent medical education provider we cover a range of conditions across many therapy areas. Applying for grants we can’t always choose, but we do not treat any disease differently. We are always committed to delivering freely accessible high-quality learning to a global multidisciplinary healthcare audience. Our purpose is to disseminate evidence-based, practical knowledge to those who can implement and translate it into practice to improve outcomes for their patients.

With the substantial investment in well-known therapy areas, such as oncology and endocrinology, the question to ask is are rare diseases overlooked by medical education? This is not the space to debate what constitutes a rare disease*, but on the face of it, the odds are stacked against them, even though collectively they affect a significant number of people. Unfortunately, early signs and symptoms can be, and often are, confused for more common conditions, so valuable time is lost, causing harm, unnecessary tests, and a higher cost burden, all of which substantially reduces quality of life for individuals and their families.

So I would say, yes they are overlooked, simply because they are categorised as rare according to established definitions (which can vary in different parts of the world), and there are limited resources disproportionate to an estimated figure of 10,000 diseases (although the real number has never been officially verified)** needing treatments and a cure. When the opportunity arises, we take this responsibility seriously. We start from the assumption that the vast majority of HCPs have little or no knowledge or experience with this rare disease, and then build and deliver an accessible, innovative solution to reach the right people for a measurable impact. Our award-winning program on the ultra-rare genetic condition, fibrodysplasia ossificans progressiva (FOP) is designed around the fundamental starting point of any rare disease – recognition.

Our Program Director, Dr Robert Pignolo worked with us to create a simple, multimedia clinical tool, Journey to FOP diagnosis, to help healthcare professionals (HCPs) in this difficult but crucial stage with a guided approach to recognition and diagnosis, and how to avoid misdiagnosis and harm. This is an invaluable tool for all HCPs in any discipline who could be presented with a case of FOP, to be able to recognize FOP in its earliest stages, avoid mistreatment, and ensure the best possible care is provided anywhere in the world.

*How Many Rare diseases are there?


FOP: Recognition, Treatment and Hope

Journey to FOP Diagnosis Tool