Enhancing Care for Rare Diseases: Multidisciplinary Approaches and Innovative Therapies

The Precision Medicine in Rare Diseases program focuses on investigating the genetic, metabolic, pathophysiological, and therapeutic dimensions of conditions that impact both on the central and peripheral nervous systems. By bringing together clinical and basic research teams, this program aims to uncover the underlying genetic causes and mechanisms of these rare diseases. With the goal of improving early diagnosis, the program employs advanced multi-omics analysis and molecular biology techniques. Cutting-edge research in metabolomics, molecular genetics, and neurogenetics has facilitated the development of novel biomarkers and personalized therapeutic strategies, enabling targeted interventions for patients with conditions that are challenging to diagnose and treat.

The ÚNICAS Project is dedicated to improving the care of pediatric patients with rare diseases, focusing on three core pillars: data sharing, translational research, and the use of advanced digital services. By establishing a federated data platform that connects 30 centers across Spain, the project fosters collaboration to enhance knowledge and build predictive models. Research efforts center around precision diagnostics, advanced therapies, and the integration of metabolomics, genomics, gene therapy, and cell therapy development. Additionally, an AI-powered telemedicine platform offers remote care, urgent consultations, and patient education, ensuring comprehensive, accessible support while bridging the gap between research and clinical practice.