Using Patient Science to explore the treatment of rare diseases

Research into rare diseases is often difficult for medical and economic reasons. At the same time, there are hardly any studies in health research that involve citizens actively in the research process as it is in Citizen Science projects. A new study under the direction of Fraunhofer ISI tackles both problems and comprehensively involves rare disease sufferers and their relatives. The aim of the study, which is essentially carried out by patients, is to identify and work on a topic that is important for the patients and suitable for joint research. In addition, the potentials and limitations of this “Patient Science“ approach will be highlighted. The study is one of 13 Citizen Science projects funded by the German Federal Ministry of Education and Research.

In Germany, more than four million people suffer from a rare disease. This includes cystic fibrosis, a genetic metabolic disease affecting about 8,000 people in Germany. Scientific studies rarely deal with the everyday living conditions of patients and their relatives. In this context, possible improvements in everyday life are extremely important because they can have a positive effect on well-being.

A new Patient Science study tackles this problem and for the first time comprehensively involves patients and their relatives in a research project. Under the direction of Fraunhofer ISI and in cooperation with the University Hospital Frankfurt and Ostfalia University, the project investigates solutions for everyday handling of the rare disease. The innovative project is supported by the German Association for Self-help in Cystic Fibrosis (Bundesverband Selbsthilfe bei Mukoviszidose) which contributes its specialist knowledge about the disease and its contacts.

Dr. Nils Heyen, who is project manager at Fraunhofer ISI, describes the project’s goals as follows: “The main aim is to identify, research and thus contribute to solving a major everyday problem of cystic fibrosis patients. In addition, the potentials and limitations of Patient Science are to be demonstrated as a new Citizen Science approach and by this, the general concept of Citizen Science is to be further developed methodically and in terms of its range of applications“.

In many Citizen Science projects, the participation of citizens has so far been limited to data collection, for example when observing animals or insects. In this project, in a first phase, topics are collected and the actual question of the investigation is worked out, which is deliberately left open at the start. This is intended to ensure the active participation of patient scientists and to ensure that important needs and everyday problems of the cystic fibrosis community are taken into account. Subsequently, the study is planned in detail and the skills required for its implementation are imparted through a direct exchange with professional scientists.

The close cooperation between professional and patient scientists also applies to all subsequent project phases in which the selected scientific question is worked on, data are collected and finally analyzed. The study design also provides for an evaluation, which is also the basis for the methodological examination of the entire research process with regard to Patient Science as a special Citizen Science format. This format is special in that patients are always affected by the disease, which can have an impact on the research process. The findings collected are therefore to be reflected upon in general and contribute to sounding out the potentials and limitations of Patient Science. Based on the results of the project, a practical guideline and recommendations for action will be developed, which should work towards positive impulses for the everyday life of those affected.

The project is funded by the German Federal Ministry of Education and Research within the scope of the Citizen Science funding area. It is one of 13 projects that aim to promote cooperation between citizens and scientists in terms of content and methodology by the end of 2019 and to provide answers to societal challenges. Further information is available at and

The Fraunhofer Institute for Systems and Innovation Research ISI analyzes the origins and impacts of innovations. We research the short- and long-term developments of innovation processes and the impacts of new technologies and services on society. On this basis, we are able to provide our clients from industry, politics and science with recommendations for action and perspectives for key decisions. Our expertise is founded on our scientific competence as well as an interdisciplinary and systemic research approach.

Last modified: