PERsonalised medicine for SAIDs

Systemic autoinflammatory diseases (SAIDs) are a growing group of rare, frequently hereditary diseases of the immune system. Mainly affected are children who show ill-defined symptoms such as fluctuating degrees of fever, as well as abdominal, articular, and cutaneous signs, making a clinical diagnosis difficult. These afflictions are a substantial burden to the quality of life, both for the affected children and their parents. If not correctly diagnosed and treated in time, severe complications may arise. Therefore, in the last few decades, intensive research has been carried out into the detection and treatment of these diseases and a number of genetic factors have been found which can help to detect the diseases timely and accurately and treat them in a targeted manner. For the Patient, however, such a process can take several years and in many cases the elucidation of the cause of disease and a personalised treatment is still not possible. The PerSAIDs project tries to find new ways to close this diagnostic gap. Methods are to be developed that allow the attending physician to recognize all SAID patients early and correctly and to treat them effectively and without side effects. In order to achieve this goal, the most important European patient registries are available to the consortium. The most modern molecular analysis methods are used to characterize the diseases, the results of which are analyzed using methods of artificial intelligence and systems biology. The aim is to reduce the complexity of the diseases, decipher the underlying causes and open up new therapeutic paths. Automated systems are to be built with the involvement of all relevant players (doctors, scientists, industry), which should make it easier for the treating physicians to make correct and timely decisions in routine diagnostics. To ensure compliance with the highest ethical, legal and social standards, the project is accompanied by an ELSI (Ethical, Legal and Social Implications) working group. Six research groups from five different countries are working on the project, which is led by Prof Isabella Ceccherini at the Instituto Gaslini in Genoa (IT).