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IEM-SJD-HCB Consortium

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NIAID Data Ecosystem2026-05-10 收录
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The IEM-SJD-HCB Consortium is an interdisciplinary healthcare and research initiative formed by teams associated to Hospital Sant Joan de Déu (SJD) and Hospital Clínic de Barcelona (HCB). These hospitals are recognized as Clinical Excellence Units (UEC), National Reference Centers, Services and Units (CSUR), and are active members of the European Reference Network (ERN) for inherited metabolic diseases. The main objective of the consortium is to promote the knowledge in the field of inherited metabolic disorders, with the final goal of improving the quality of life of patients and their families. This interhospital collaboration has fostered the transition of pediatric patients from children’s hospitals (SJD) to adult healthcare services (HCB). This effort began in 2012 and was designed to address the need of following-up patients diagnosed during childhood who reach adulthood. The initiative not only improved clinical outcomes but also facilitated the generation of longitudinal data, essential for understanding and potentially changing the natural history of these disorders. SJD and HCB have a long and fruitful history of collaboration, reflected in joint publications, projects, and dissemination activities. This partnership also included sharing diagnostic approaches and tools to solve complex clinical cases and provide therapeutic options to patients. In alignment with research policies and strategic priorities in the field of rare diseases, this collaboration has allowed long-term patient follow-up, monitoring, treatment and counseling. The synergy of different expertise within the consortium has contributed to advance in the understanding of disease etiology and pathophysiology, as well as the development of potential therapeutic strategies and clinical trials. The consortium’s research is highly translational, as it involves basic and clinical researchers belonging to various institutions, including the University of Barcelona, Hospital Clínic de Barcelona, Hospital Sant Joan de Déu, Fundació Clínic per a la Recerca Biomèdica-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), and Sant Joan de Déu Institut de Recerca. A current list of the whole membership can be found in the attached document.
创建时间:
2025-11-11
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