Rare disease patient groups as clinical researchers

Abstract

In the face of inadequate treatments, rare disease patients have begun acting like scientists and studying themselves. Through online networks, patient groups transform disease experiences into novel research data: exchanging therapeutic anecdotes, willingly self-testing treatments and compiling outcomes into preliminary research hypotheses which are subsequently relayed to professionals. Through such efforts, rare disease patient groups have helped evaluate and validate several new therapeutic modalities. This article specifically explores the process of patient-driven research while considering broader implications of the trend. While issues regarding methodological quality and patient safety must not be overlooked, through future partnerships with academia and the pharmaceutical industry, patient groups could function as a powerful resource in rare disease research.