Expert systems are programs that help improve human decision-making processes in very specific or professional areas. They are composed of a knowledge base and an inference engine.
The input information are combines and used to generate new, unembedded inferences. The system as a whole is thus able to provide answers to questions that would otherwise require multiple human experts to consider all the areas of interest involved.
In the field of rare diseases, this concept is extremely advantageous, due to the need for cooperation of more experts and, patently, less frequent personal experience of individual clinicians with a particular disease. The ERN Cranio project comes with the possibility of creating a network that connects individual European workplaces, collects data on patients with rare craniofacial diseases and creates an environment that helps in the diagnosis and treatment of these diseases.
This paper defines expert systems, presents their capabilities and limits. It presents the concept of the ERN Cranio project and monitors the current situation dealing with diagnostics of rare diseases.