Natural history studies are a type of observational research that track the natural progression of a disease over time. They are a critical component of medical research, particularly in the area of rare diseases. Many rare diseases are not well characterized, which can lead to challenges when trying to develop therapeutic interventions.

In this episode of the documentary web series, The Hope Scenarios: Focusing the Lens on Rare Diseases, we get an inside look into the Dysautonomia Center at New York University Langone Health. The Dysautonomia Center, led by Horacio Kaufmann, MD, is currently undertaking a natural history study of familial dysautonomia (FD), an extremely rare genetic condition which impacts the autonomic nervous system.

The clinicians at the Dysautonomia Center have also begun incorporating video data into their natural history study. Video can be a powerful addition to a natural history study. It can capture qualitative changes over time that may be difficult to capture in other data, and may also be used to track unique biomarkers.

This episode provides a fascinating look inside the process of carrying out a natural history study, and also shows how video can be a powerful tool for research going forward.