Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery

•We describe the paths of three parent/patients as they become involved in drug discovery.•We show that work on rare and ultra-rare diseases is urgently needed.•We illustrate the research and progress possible on very small budgets.•Current state-of-the-art research is described for three ultra-rare or rare diseases.•We propose that parent/patient organizations could disrupt how we do drug discovery.

Individual parents and patients are increasingly doing more to fund, discover and develop treatments for rare and ultra-rare diseases that afflict their children, themselves or their friends. They are performing roles in business development that would be classed as entrepreneurial; and their organizational roles in driving the science in some cases are equivalent to those of principal investigators. These roles are in addition to their usual positioning as advocates. Through their efforts and those of the collaborative networks that they have developed, they could be positioned to disrupt the usual course of drug discovery. This can be illustrated using three different ultra-rare disease parent/patient advocate groups and the diseases for which they are developing treatments. This represents an alternative model for pharmaceutical research.