Year of Establishment: 2024
The “Mario Di Martino” University Research Centre for Undiagnosed Rare Immunological Diseases (MARIN) was established within the Department of Clinical and Experimental Sciences (DSCS), with its administrative headquarters located within the Department.
The Centre’s activities will be carried out in close collaboration with, and with the support of, the “Camillo Golgi” Foundation, which has supported research in maternal and child health and rare diseases.
The Centre aims to develop tools to better understand and diagnose rare and complex medical conditions affecting children. Its establishment is based on several key objectives:
1. The prevalence of rare diseases: rare diseases are often overlooked because of their low individual prevalence. However, taken together, these conditions affect a significant number of children. A dedicated centre can focus its research efforts on these less common conditions, seeking to identify links between apparently unrelated cases and discover new syndromes or diseases.
2. Diagnostic challenges: rare diseases often evade conventional diagnostic methods. Symptoms may be varied and nonspecific, making it difficult for healthcare professionals to identify the underlying condition. A specialised centre can leverage advanced technologies, such as genomics, transcriptomics and proteomics, to conduct detailed analyses of patients’ genetic profiles and identify the causes of disease.
3. An interdisciplinary approach: the Centre will adopt an interdisciplinary approach, bringing together experts from a range of fields, including medical genetics, paediatrics, immunology, molecular biology and bioinformatics. This multidisciplinary collaboration will enable a comprehensive understanding of each patient and facilitate the exploration of different diagnostic and therapeutic perspectives.
4. Development of personalised therapies: a deeper understanding of rare diseases will pave the way for the development of personalised therapies. Precision medicine can be used to design targeted treatments that take into account each patient’s specific genetic and biological alterations. This approach has the potential to significantly improve the quality of life of children affected by these conditions.
5. Training and awareness-raising: the Centre will play a key role in training medical professionals, researchers and healthcare practitioners in the field of rare diseases. It will also promote public awareness, fostering greater understanding of and support for children affected by these conditions.
6. Advanced scientific research: the Centre will conduct advanced scientific research to gain a better understanding of the genetic and molecular basis of rare diseases. Publishing and sharing research findings will contribute to global scientific knowledge and may also help advance the understanding and treatment of more common diseases.
Link: Camillo Golgi Foundation