Prof. Maurizio Scarpa

Professor of Paediatrics at the Dept. Of Women’s and Children’s Health, University of Padova, Italy. Director, Coordinating Center for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy. Coordinator of MetabERN.

Prof. Dr. Stefan Kolker

Pediatrician with certified specializations in Pediatric Metabolic Medicine and Pediatric Neurology and Professor in Translational Metabolic Medicine and Pediatric Neurology is Head of the Division of Pediatric Neurology and Metabolic Medicine at the University Children’s Hospital in Heidelberg, Germany.

Prof. Shamima Rahman

Professor of Paediatric Metabolic Medicine. Genetics & Genomic Medicine Dept, University College London, Great Ormond Street, Institute of Child Health, UK.

Prof. Holm Graessner

Institute of Medical Genetics and Applied Genomics and and Centre for Rare Diseases, University of Tübingen, Coordinator for the European Reference Network for Rare Neurological Diseases (ERN-RND)

Eva Pesaro

Vice President UNIAMO Federazione Italiana Malattie Rare Onlus. Patient representative in scientific projects and activities: BBMRI Stakeholder Forum Patient and Citizens; Italian ELSI-BBMRI -Biobanking and Biomolecular Resources Research Infrastructure; Multi stakeholder working groups on good practice and privacy protection, informed consent and training initiatives.

Simona Bellagambi

Vice-President of EURORDIS-Rare Diseases Europe. In Recon4IMD, involved in a team with the PI with the main task of liaising with EURORDIS to identify patient organisations contributing to patient recruitment and for the dissemination.

 

Martina Bon

Biologist with a Master’s Degree in Functional Genomics. Data Manager and Project Manager of European Projects at the Coordinating Center for Rare Diseases in the University Hospital of Udine.

Fernanda Neiva Fernandes

Specialist data manager for Recon4IMD project as far as the U-IMD registry is concerned, Heidelberg University Hospital. Holds Master's degrees related to the fields of healthcare, technology and data analysis.

Kornelia Ellwanger

Logistics support for data and sample collection in Recon4IMD .Project manager in the project Solve-RD, University of Tübingen.

Florian Gleich

Economist at Heidelberg University Hospital, specializing in data and project management in the field of rare hereditary metabolic disorders. Experience in establishing and maintaining large international registry studies and associated consortia, including E-IMD, E-HOD, iNTD and  U-IMD.

Dr. Martina Messina

Clinical Research Fellow at University College London, in the department of Genetics and Genomic Medicine Research & Teaching. Trained Paediatrician with experience in Inherited Metabolic Disorders. Working on Recon4IMD project as part of the UCL team, principally involved in IMD patients’ recruitment and in particular children affected by primary mitochondrial diseases.

Dr. Julian Teinert

Clinician scientist, Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine Heidelberg, Germany.
 

David Ruvolo

Developer in the MOLGENIS team at the University Medical Centre Groningen with interest in data visualisation and dashboards. Involved in developing IMDhub for Recon4IMD.