Coordinator and associated partnersHCB info
The U-IMD Project is currently made up by 6 Partner Organizations
Stefan Kölker (Coordinator)
Thomas Opladen (Registry lead)
University Children's Hospital Heidelberg (UKL-HD) houses one of the largest metabolic centres worldwide including outpatient and inpatient facilities for metabolic patients as well as diagnostic and research labs. It coordinated large-scale network projects such as the EU-funded E-IMD (Chafea no. 2010 12 01) and iNTD and leads the registry work packages of E-HOD (Chafea no. 2012 12 02), being consistently among the most active contributors of patient records for the IMD registries.
Prof. Dr. Stefan Kölker is Head of the Division of Neuropediatric and Metabolic Medicine at University Children's Hospital in Heidelberg. He is coordinator of E-IMD and with his team has established and manages the E-IMD and E-HOD registries. He is active member of the E-IMD and E-HOD Steering Group, vice-coordinator of MetabERN and co-chair of the amino and organic acids-related metabolic diseases subnetwork.
Prof. Dr. Thomas Opladen is Consultant for Pediatric Metabolic Medicine at the University Children's Hospital in Heidelberg, specialist in Child Neurology and Pediatric Intensive Care. He coordinates the International Network and Patient Registry (iNTD) and co-chairs the MetabERN subnetwork for disorders of neuromodulators and other small molecules including porphyrias (NOMPS).
For more info http://metab.ern-net.eu/universitatsklinikum-heidelberg/
Vseobecna Fakultni Nemocnice v Praze (General University Hospital in Prague)
Viktor Kozich (Dissemination lead)
Prague, Czech Republic
General University Hospital in Prague (GUHP, VFN v Praze) is one of the largest tertiary care hospitals in the Czech Republic and collaborates closely with the largest national medical school (First Faculty of Medicine of Charles University). The GUHP is offering care also for patients with rare diseases and became a member in four ERNs, including MetabERN. The Department of Pediatrics and Adolescent Medicine provides nationwide complex clinical services including emergency treatment, in-patient and out-patient care, diagnostic services (biochemical, enzymatic, histopathological and molecular genetic analyzes) as well as newborn screening by LC-MS/MS. The GUHP has been recognized by the SSIEM and by the European Academy of Pediatrics as a training center for pediatric metabolic medicine.
Viktor Kožich, MD., Ph.D. is a Professor of Medical Genetics working in the Department od Pediatrics and Adolescent Medicine. He leads the dissemination work package of E-HOD, he is represented in the E-HOD steering group, and in MetabERN he is the official representative of GUHP and became a work package leader on evaluation measures
Ospedale Pediatrico Bambino Gesù
(Bambino Gesù Children’s Hospital)
Carlo Dionisi-Vici (Evaluation lead)
Bambino Gesù Children’s Hospital (OPBG) is a Research Institute for Health Care, part of the Italian National Healthcare System and recognized as national and international referral centre for paediatrics. It covers all health care needs with special focus on rare diseases, including metabolic diseases. OPBG is represented in E-IMD and leads the guideline work package of E-HOD, also being consistently among the most active contributors of patient records for the IMD registries.
Dr. Carlo Dionisi Vici is Head of the Division of Metabolic Diseases of Bambino Gesù Children’s Hospital in Rome. He is the Spokesperson for the E-IMD Scientific Board, part of the E-IMD Member's Board, and leader of the guidelines work package of E-HOD and represented in the E-HOD Steering Group and E-HOD Advisory Board.
Hospital Sant Joan de Deu
Angels Garcia-Cazorla (iNTD Representative)
Hospital Sant Joan de Déu (HSJD) is ranked as the largest and the most renowned children’s hospital in Spain and one of the most recognized of its category across Europe, being ranked as the third European medical Centre of its kind by volume of activity. The hospital treats complex cases in all paediatric specialties, both medical and surgical offering a comprehensive and multidisciplinary approach to health care from birth through 18 years of age. HSJD is represented in E-IMD, E-HOD and iNTD, being consistently among the most active contributors of patient records for the IMD registries.
Dr. Àngels García Cazorla is an expert in rare neurometabolic and neurogenetic disorders from Hospital Sant Joan de Déu Barcelona. She is currently the Principal Investigator of Laboratory of Synaptic Metabolism and the coordinator of the Neurometabolic Disorders Unit of HSJD. Founder of the network for synapse study: "Connecting The Growing Brain". She participates in InNerMed Network and is represented in the iNTD Steering Committee, the E-IMD Scientific Board and Member's Board and the E-HOD Advisory Board.
For more info http://metab.ern-net.eu/hospital-sant-joan-de-deu/
University Hospital of Udine
Maurizio Scarpa (MetabERN Coordinator)
Azienda Sanitaria Universitaria Integrata di Udine (University Hospital of Udine) is a third level health-care structure, spread over 166000 m2, with highly specialized centres of national and international relevance. The staff is composed of approximately 4000 full-time physicians, nurses and administrative staff. The patients hospitalized in year 2008 were 46.969. Every medical specialty is represented, equipped with the latest technological procedures to ensure the best quality of care for patients. In particular, the University Hospital offers areas of excellence including highly specialized departments of Cardiology, Cardio-surgery, Liver and Kidney Transplant Units, Neurosurgery, Neurology, Haematology, Bone Marrow Transplant unit and the Regional Centre for Rare Diseases. The University Hospital of Udine is also a higher education hospital recognized across the country for high-level research and learning opportunities. In 2014 University Hospital of Udine was the first hospital in Italy and one of the first hospitals in Europe to be accredited as Academic Medical Centre by the Joint Commission International.
The Regional Coordinator Centre for Rare Diseases of University Hospital of Udine (ASUIUDRD) is a member of the European Reference Network (ERN) for Rare Metabolic Diseases, MetabERN, since 2016, and the Coordinator Centre of the network since 2019. The Center follows about 500 patients with metabolic diseases and is appointed by the Regione Friuli Venezia Giulia as Coordinator of all the activities and plans on Rare Diseases. The ASUIUD-RD coordinates the Regional Network on Rare Diseases formed by 18 hub hospitals. The ASUIUDRD is responsible for the Regional Registry for Rare Diseases counting about 6000 patients with rare diseases. The Registry is connected with the National Registry for Rare Disease coordinated by the Italian NIH in Rome.
Prof. Dr. Maurizio Scarpa is the Director of the Regional Coordinator Centre for Rare Diseases of University Hospital of Udine. He is the Coordinator of MetabERN. He will collaborate in the Coordination and the dissemination of the project inside MetabERN.
For more info https://asuiud.sanita.fvg.it