It’s Rare Disease Day. Last year on our blog, we looked at how rare diseases can help better our understanding of common diseases. This year, we delve into whether the reverse can be true as well.
What is a rare disease?
In the European Union, a disease is categorised as ‘rare’ if it affects fewer than 1 in 2,000 people. There are currently over 6,000 known rare diseases, and this is increasing as medical understanding improves.
Because many rare diseases are monogenetic, they provide a relatively clear view on the impact of a single gene, or pathway, on disease and, in quite a few cases, this helps to better understand the more frequent “common” diseases.
How precision medicine can further understanding
Is the reverse also true: can we look at common diseases in a way that helps to better understand rare diseases? We think that’s the case if we factor precision medicine into the picture. Precision medicine, by use of, for example, big data, deep phenotyping, or -omics approaches, has the power to create many “small” indications out of a single “common” disease. Each of these small and well-defined indications is more homogenous, both considering the pathophysiology as well as (frequently) the clinical course.
The therapeutic approach
Being able to define groups of patients where the disease is driven by a defined mechanism opens the door to come up with a very specific therapeutic approach – and that’s where we meet rare diseases again. Better matching a drug’s mode of action to a pathophysiology is one of the best chances to provide superior efficacy and, eventually, much better outcomes to patients.