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 is often a lot of unknowns. For a scientist this means that there is a lot still to be discovered. Quite obviously, unlike heart disease, cancer or diabetes, at any one time there are fewer people working on a single orphan disease. This means that you can really advance knowledge and make a contribution.
Rare diseases teach you a lot. Carefully observing patients in the laboratory can tell you how catastrophic mutations affect the development of nerves in children. At the other end of the spectrum, they can teach you which nerves are vulnerable to die off with different neurodegenerative processes as we age. Working with different rare diseases gives you a unique perspective and an invaluable data set.
Whenever you do an experiment with a patient who has a rare disease, you immediately think how valuable that information is. You learn think on your feet, making sure that you didn’t miss anything. Each data set is like gold. With ultra rare diseases, overtime, you come to be the only person in the world that has that data. Studies can take you years to complete, any most times generate more questions than answers, but they can change our understanding and shape clinical practice.
Awareness of rare diseases is growing and rare diseases are surprisingly well funded. The NIH and FDA offer initiatives to study orphan diseases, often in collaboration with other researchers with shared interests. Combining efforts gives strength in numbers, which benefits everyone involved. It also gives you the opportunity to branch out and work with other groups – which can bring valuable learning opportunities.
Studying rare autonomic diseases is particularly fast paced. Since the autonomic nervous system influences every organ of the body, involvement of the autonomic nerves can affect any organ system. This means your research can branch off in different directions and you can develop varied interests (circulatory regulation, respiratory control, sexual function, sweating), which always keeps you on your toes.
Autonomics is an emerging subspecialty. There is not a day that goes by in which we don’t appreciate how lucky we are to study the autonomic nervous system in rare disorders. These are the every reasons we keep our focus and dedicate our time to orphan autonomic disorders, for we believe really stand to make a difference.