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)

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.

 

Prof. Dr. Ulrike Mütze

Metabolic paediatrician and Professor for Paediatrics at Heidelberg University Hospital, Germany, specialising in inherited metabolic diseases identified through newborn screening. In Recon4IMD, she leads the long-term observational study (NGS 2025) and the development of AI-based tools for newborn screening, including the infant whole-body model.
 

Catherine Clancy

Clinical study manager for Recon4IMD and Research assistant, University of Galway. Holds Master's in Integrated System Biology and BSc Honours degree in Biomedical Science. Additionally has a BSc Honours degree in Business Studies with Economics, and has a number of years experience in Industry and Clinical Reaserch.

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.

Dr. Kornelia Ellwanger

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

Chidi Egwu

Software Infrastructure for Recon4IMD. BSc Honours in Computer Science, MSc Computer Science, MSc Data Analytics with years of industry experience in  software engineering and data analytics. 

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.

Somasundaram Manickavasakam

Research assistant at University of Galway, with an MSc in Clinical Research and Doctor of Pharmacy (Pharm.D) degree. Background in clinical trial methodologies, research ethics, and clinical data management, with a focus on data quality and GCP compliance.

Chelsi Clarke

Research Assistant at School of Medicine, University of Galway. Project Manager for Recon4IMD. Holds Master's in Clinical Neuroscience. 

Giorgia Vesca

PhD candidate in Molecular Medicine at the University of Udine, currently working as a Data Manager at the Regional Coordination Centre for Rare Diseases in Udine. 

Barbara Lovrencic

Principal Investigator for UNIAMO in Recon4IMD. President of the Italian patients' association for ITP since 2015, with experience in Quality of Life research, patient advisory boards, and guideline development, including the EHA-ERCI working group for European ITP guidelines.