Project partner InNerMeDInNerMeD INHERITED NEUROMETABOLIC DISORDER INFORMATION NETWORK Members: Sveuciliste u Zagrebu Medicinski FakultetThe University of Zagreb, School of Medicine is established in 1917 and is the oldest educational institution for medical training and research in the South-East Europe. The researchers published over 1,320 papers, successfully participated in a number of international research projects. Recently 5 projects were financed by FP5, 7 by FP6, 1 by FP7. 5 other projects received support within the framework of COST actions, 2 within the TEMPUS program, 2 within DG Sanco program and 1 in the Croatian-Indian collaboration.

Part of the School of Medicine is the Croatian Institute for Brain Research (CIBR), which is the largest research unit of the Zagreb School of Medicine and has been conducting research in the program entitled Neurobiology of Cognitive Development and Cognitive Disorders since 1997. This program currently encompasses 28 individual (intramural as well as extramural) projects in basic and clinical neuroscience, thus representing the single largest program in Croatia. Another program at the CIBR is related to the Pathophysiology of the Cerebrospinal Fluid. During the past six years, researchers at the CIBR published over 100 papers in high-profile international journals, with a focus on human developmental neurobiology, pediatric neuroimaging, and the biological basis and pharmacogenomics of mental and neurological disorders.

Activities of UZMS in the InNerMed project area will be related to participation in: creation of a network in the field of inherited neurometabolic disorders, contribution to creation of an IT platform, contribution to creation an electronic repository including multiple-source relevant information on inherited neurometabolic disorders, producing informative scientific documents aimed to reduce the knowledge gap, favouring the development of diagnostic tests and medicines for patients with neurometabolic disorders, and making the contacts with professionals easier for the patients and their families. Emphasis will be given to inform neuropediatricians, neuropediatric and neurology societies, as well as other societies dealing with all aspects of neurometabolic diseases in the southeastern Europe about the project and to involve them in the activites of the project, including those dealing with research like Croatian Institute for Brain Research.

Key staff involved in the project

Full professor of pediatrics at Zagreb Medical School, Head of Division for Metabolic Diseases, Dept. of Pediatrics, Univ. Hosp. Center Zagreb, awarded with Horst Bickel Award for description of a novel inherited disease, about 50 scientific papers in CC-journals, mostly related to inborn errors of metabolism, over 600 citations, communicating editor in Journal of Inherited Metabolic Disease, council member of the Society for Study of Inborn Errors of Metabolism, principal investigator in Croatian project “Inherited metabolic and other monigenic diseases in children” for 10 years, participant in FP6 project “Euroglycanet” and “European registry and network for intoxication type metabolic diseases (E-IMD)” and “The network and registry for homocystinurias and methylation defects (E-HOD)” funded by DG Sanco.

Professor of pediatrics at Zagreb Medical School, Head of Division for Neurologic Diseases, Dept. of Pediatrics, Univ. Hosp. Center Zagreb, awarded with American child neurology society Award Bernard d’Souza at John Hopkins and Childrens Hospital Washington for achievements in the field of pediatric neurology, about 80 scientific papers in CC-journals, mostly related to neurologic diseases in childhood, over 200 citations, principal investigator in Croatian project “ The role of white matter and basal ganglia in the epileptogenesis of developmental age” since 2006, participant in European collaborative project ” Ethiopathogenesis of idiopathic epilepsies and rare epileptic syndromes”.

Pediatrician and assistant employed at Division for Metabolic Diseases, Department of Pediatrics, University Hospital Center Zagreb and University of Zagreb, School of Medicine. Methionine and homocysteine metabolism, S-adenosylhomocysteine hydrolase deficiency and posttranslational methylation are his major scientific interest. His PhD thesis was “Impact of S-adenosylhomocystein hydrolase deficincy on protein methylation”. He was awarded with First place Award on national competition in chemistry, Zagreb (1988), Rector’s excellent scientific student Award, University of Zagreb (1999) and Educational excellent scholarship of the Zagreb city (1998-2001). He published 10 Current Contens papers.

PhD student, pediatrician and assistant employed at Division for Neurology, Department of Pediatrics, University Hospital Center Zagreb and University of Zagreb, School of Medicine. He has been involved in care of patients with various neurometabolic diseases and has been additionaly engaged in care of patients with congenital myastenic syndrome. He was secretary of the 9th European Pediatric Neurology Society Congress (EPNS).

PhD student, research assistant at University of Zagreb, School of Medicine, employed at project “Inherited metabolic and other monogenic diseases in children”. She is involved in care of numerous patients with neurometabolic diseases, particularly of those with lysosomal storage disorders. Two articles in CC-journals.

Provides expert administration and management support.

One of the aims of the InNerMed project is to establish and provide continuous support to the network of people, both professionals and laymen, dealing with inherited neurometabolic disorders in southeastern Europe. Therefore, two experts have been adopted in the core UZSM team to enhance its capacities- professors Ljerka Cvitanovič Šojat and Ksenija Fumič. Together with professors Barič and Barišič they have role to provide expert information and evaluation point for this part of Europe for both clinical and biochemical aspects of neurometabolic disorders.

Paediatrician and subspecialist of child neurology. Her PhD thesis was “Glycolipids and catalytic enzymes in children with neurological disorders and mental retardation”. Since 1989 head of the Division for Neurologic Diseases, Dept. of Pediatrics, Univ. Hosp. Center “Sestre milosrdnice” Zagreb. Head of the Department of Pediatrics, Univ. Hosp. Center Sestre milosrdnice   since 2012. Associate professor of pediatrics at School of Dental Medicine University of Zagreb. Epileptologist and the fellow of the EUREPA (European Epilepsy Academy) since 2003. Awarded with Croatian League Against Epilepsy Award, Croatian Pediatric Association Award   and Croatian Medical Association Award.   She is a member of several professional societies including European Paediatric Neurology Society, International Child Neurology Association, Association Belge de neurologie infantile, European Society for the Study of Inborn Errors of Metabolism. She is the investigator in several Croatian research projects. Her major interest are inborn errors of metabolism and neurometabolic   disorders. She published her work in 47 articles citated by Current Contents, Science Citation Index Expanded or Index Medicus/Medline with 265 citations.

Specialist in medical biochemistry and professor at the School of Pharmacy and Biochemistry; defended her PhD thesis at Karl Franzens University, Graz, Austria. Her main research interests are inborn errors of metabolism, particularly lysosomal disorders. She was a fellow at the universities of Graz, Gent and Göttingen. Ksenija Fumic has 36 scientific articles in CC-indexed journals. She is a member of the Croatian Society of Medical Biochemists, Croatian Society of Human Genetics, Austrian Biochemical Society, European Study Group for Lysosomal Diseases, Society for the Study of Inborn Errors of Metabolism, etc. Since 1999, she has been the head of the Laboratory for Inborn Errors of Metabolism, Clinical Institute of Laboratory Diagnosis, Zagreb University School of Medicine and Clinical Hospital Center, Zagreb, Croatia, which is the only lab in the country dedicated to the diagnosis of inborn errors of metabolism.

For further information please visit the following useful links:

University of Zagreb, School of Medicine

University Hospital Center Zagreb

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