What it means to study rare diseases

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 who has a rare disease, you immediately realize 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 and with ultra rare diseases, overtime, this becomes the only place in the world where that data exists. By storing it well, you can look back on the natural history of the disease. Studies can take you years to complete, and usually 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. Partnership with non-profit foundations is an essential component.  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 sub-specialty in medicine.  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 very reasons we keep our focus and dedicate our time to orphan autonomic disorders, for we believe we really stand to make a difference.

The Center is funded by a U54 Consortium grant award from the NIH’s Office of Rare Disorders Research (ORDR) through their Rare Diseases Clinical Research Network (RDCRN) and grants from the MSA- Coalition. Our work is made possible thanks to the unwavering support of the Dysautonomia Foundation, Inc. – a non-profit providing support for research in familial dysautonomia.