Rare diseases affect less than 1 in 2000 people and it is estimated that around eight to nine hundred thousand people in Hungary are affected by some kind of rare disease. There are several thousand rare diseases, the majority are genetically determined, but the number of diseases related to various infections or the immune system is also significant says Márta Széll, head of the project.

At the Department of Pediatrics of the University of Szeged, infants are screened for 26 different metabolic diseases where an early diagnosis is crucial. Researchers are developing methods for the precise determination of the genetic background of these diseases, opening the door for personalized therapy.

A Hungarian clinical databank will also be established and expanded in the scientific framework of the project. This databank is essential for customized diagnostics and therapy and for the planning of up-to-date basic and pharmaceutical research based on genetic findings. The genome-level database will radically improve therapeutic safety in daily medical care and family planning and it will also help decrease the incidence of severe genetic diseases.

The outcomes of this programme will provide an unparalleled opportunity, to understand the pathogenesis of rare diseases, to develop novel diagnostic and therapy procedures, and for the longterm integration of all these processes into clinical practice.