Working on rare diseases like MSA gives you a unique perspective into how progress in research can translate into better clinical care for patients.
An orphan disease is disease that affects less than 200,000 Americans. Orphan diseases (also called rare diseases) are surprisingly common and there are an estimated 7,000 different orphan diseases affecting around 30 million Americans. But why study them?
The advantage of working on rare diseases is that there are often a lot of unknowns. For a scientist this means that there is a lot still to be discovered. Unlike heart disease, cancer or diabetes there are fewer people working on a single orphan disease. This means that you can really advance knowledge and make a contribution.
Patients with rare diseases teach you a lot. Working with different rare diseases gives you a unique perspective and an invaluable data set. Carefully observing patients in the lab teaches you how catastrophic mutations affect the development of nerves in children and how neurodegenerative processes destroy the nerves as we age.
Whenever you do an experiment with a patient…
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