The multidisciplinary and cross-functional expert group brings together representatives of the broad rare disease community, including researchers, academia, patient representatives, members of the investor community, rare disease companies and trade associations.
Coordinator, ERN for Rare Hereditary Metabolic Diseases (MetabERN)
Prof Dr Maurizio Scarpa is currently the Coordinator of the European Reference Network for Hereditary Metabolic Diseases (MetabERN). He has extensive expertise as a basic scientist in genetics and biotechnology and as a clinician in the diagnosis and treatment of paediatric rare disorders, in particular neurometabolic diseases. He is especially interested in developing innovative health approaches for the diagnosis and the treatment of metabolic inherited diseases and he is also collaborating with major biotech companies as external independent expert to this purpose. Prof Dr Scarpa published about 140 international peer reviewed clinical and scientific papers, book chapters and reviews.
Professor of Translational Genetics, Leiden University, Medical Centre
Prof Dr Annemieke Aartsma-Rus is a professor of translational genetics at the department of human genetics at the LUMC. She has a visiting professorship at the John Walton Muscular Dystrophy Research Center at the Institute of Genetic Medicine of the Newcastle University (UK). In 2014 Annemieke Aartsma-Rus was accepted in the Jonge Akademie (the junior section of the Dutch Royal Academy of Sciences, consisting of the 50 most prominent scientists of under 45). In 2009 she received a prestigious VIDI grant. In 2011 she received the Duchenne Award for her work and dedication in the Duchenne field. Since 2016 she was elected as the most influential scientist in the field of Duchenne muscular dystrophy 5 consecutive times based on publications of the past 10 year by Expertscape. In 2020, she was recipient of the EURORDIS Black Pearl Award.
Director, Global Regulatory Policy EU, Biogen Idec
Simon Bennett works for Biogen Idec as the Director for Global Regulatory Policy EU. Mr Bennett has a long history with the company as he has worked for Biogen Idec for seventeen years accumulating experience in the pharmaceutical industry. Biogen Idec’s goal is to lead in innovative scientific research aiming at defeating neurological diseases.
Head of Government Affairs and Public Policy, EMEA & APAC, PTC Therapeutics, Inc.
Thomas Bols is currently Head of Government Affairs and Public Policy, EMEA & APAC for PTC Therapeutics. Mr Bols previously served as Senior Vice President and Managing Director for DIA Europe, Middle East, and Africa (EMEA) in addition to corporate international public affairs and as consultant for Amgen, Merck KGaA, and Biogen, working across market access, government affairs, public affairs, health policy, corporate communications, and patient advocacy to bring medicines to patients. Mr Bols has held board positions for EuropaBio, the European Confederation of Pharmaceutical Entrepreneurs, and other associations, and chaired various regulatory and access working groups within the European Federation of Pharmaceutical Industries and Associations.
CEO, EURORDIS
Virginie returned to EURORDIS-Rare Diseases Europe in March 2024 to take on the role of Chief Executive Officer, after having previously served as the organisation’s Scientific Director. Virginie received her PhD in Neurosciences from King’s College London, UK followed by several postdoctoral research projects at the Institute of Neurology, UCL, London focused on testing therapeutic strategies for Amyotrophic Lateral Sclerosis. After leaving the lab, she worked for several research funding organisations in the UK including the National Institute for Health Research, the Medical Research Council and as Medical Director for Sparks, a medical research charity focusing on rare paediatric diseases. Upon subsequently joining EURORDIS as Scientific Director, she took the lead on project development and patient engagement in rare disease research projects representing the voice of rare disease patients, including within the International Rare Disease Research Consortium (IRDiRC). Virginie led in the creation of the EURORDIS Winter School on Scientific Innovation and translational research, aimed at empowering people living with a rare disease to fight for their rights to a better and healthier future. In January 2022, Virginie joined Illumina as Associate Director for Medical Affairs, Europe, where she engaged key opinion leaders and centres of excellence to develop clinical evidence for genetic testing of rare and undiagnosed patients to drive clinical adoption of next-generation sequencing and implementation in patient care. Until joining EURORDIS, Virginie had been a member of the Diagnostic Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC), which coordinates a dedicated working group on real-world applications and technologies for newborn screening.
Professor of Healthcare and Pharmaceutical Economics, LUISS University of Rome and Public University of Ferrara
Fabrizio Gianfrate is currently a Professor of Healthcare and Pharmaceutical Economics at LUISS University of Rome and Public University of Ferrara. He is also an Independent Consultant for pharmaceutical industries and healthcare institutions in market access policies. Prof Gianfrate has extensive expertise in the market access landscape in Italy, particularly regarding the Italian Drug Agency (AIFA) where he previously served as a voting member. He is also a former EMA Working Group Member and Founder of the European Access Academy (EAA). Moreover, he is the author of more than 700 publications and 7 books on pharmaceutical economics and policies.
Professor, European College of Parma
Mr Patrick Deboyser is currently Professor at the European College of Parma, where he is teaching on Food Law and Pharmaceutical Law. Previously, he has lectured on EU Law at the University of Brussels and at the University of Louvain. From 1984 to 2018, he was an official of the European Commission, where he held various positions including: Head of Pharmaceuticals, Head of Cosmetics, Head of Food Law and Biotechnology, Adviser to the Director-General of DG SANTE and Minister-Counsellor at the Delegation of the European Union to Thailand. In particular, in 1998-1999, Mr Deboyser led the Unit in DG SANTE which worked on the first EU Orphan Regulation.
Head of Public Affairs and Public Policy - Rare Disease Franchise Europe & Canada at Takeda
Toon Digneffe serves as Head of Public Affairs and Public Policy – Rare Disease Franchise Europe & Canada at Takeda. Currently, he is also member of the Executive Board of EUCOPE since 2018. Mr Digneffe has extensive experience in pharmaceutical industry, as he has been working in the sector since 2002 in several companies after having spent time in the European Commission and Consultancy at the early start of his career. He worked as Head of Public Affairs for Shire since 2016, before its acquisition from Takeda. Previously, he worked for Baxter International for over 13 years, and for Baxalta, with roles of increasing responsibility at local, regional and global level. Toon holds a Master in Political Science from the University of Leuven, Belgium/ University of Leicester, England and a Post-Graduate Degree in European Studies from the College of Europe, Bruges, Belgium. He is co-author of the book by Martin Westlake, “the Council of the European Union”, John Harper publishing.
Senior Orphan Drug Pharmacist, University Hospital Leuven
Mr Marc Dooms (Pharm D) is Senior Orphan Drug Pharmacist at the University Hospitals Leuven. He is compounding/dispensing pharmacist in First in Men Randomized Clinical Trials. He has been a member of the Belgian Order of Pharmaceutical Sciences and the Flemish Society of Hospital Pharmacists (VZA) since 1975 and the Belgian representative to the European Union of Experts in Rare Diseases with frequent collaboration with Orphanet, the European Society of Clinical Pharmacy, and the American Society of Health Care Pharmacists, among others, since 2000. Mr Marc Dooms is founding member of the Belgian National Board on Orphan Drugs within the King Baudouin Foundation and is a graduate-level teacher in dermatological compounding, drug adherence, and orphan drugs, since 2010. He is also teaching pharmaceutical technicians at Leuven Syntra School. He has co-authored a number of publications on orphan drugs.
Professor of Pediatric Nephrology, Vilnius University/Head, Coordinating Centre for Children Rare Diseases
Prof Dr Rimantė Čerkauskienė works as a Pediatrician and Senior Pediatric Nephrologist in the Children Hospital, Affiliate of Vilnius University Hospital Santaros Clinics, where she has become the Head of Coordinating Centre for Children Rare Diseases. She is also the Coordinator of Pediatric subspecialty training in Vilnius University. She has extensive experience with rare diseases, particularly in the areas of rare and renal diseases. Prof Dr Čerkauskienė is a Member of the National Rare Disease Action Plan and Issues related to Rare Diseases Activities committees in the Ministry of Health of Lithuania. She is actively involved in educational and research activities and contributed to more than 50 scientific and peer-reviewed publications.
Research Director, ERN Network for Rare Hereditary Metabolic Diseases (MetabERN)
Prof Dr Jean-Michel Heard is the Research Director of MetabERN. He has been research director at INSERM, director of the neuroscience department of the Institut Pasteur, member of the Institut Pasteur scientific board. Since 2011, he was the director of the Biology and Medicine departments of the Agence Nationale de Recherche (ANR) and of the French Ministry of Higher Education and Research. Prof Dr Heard has expertise in neurology, neuroscience and molecular virology. He is strongly interested in gene therapy, especially for the treatment of central nervous system disorders associated with lysosomal storage diseases. He published more than 130 peer-review articles and recently showed that gene therapy can improve cognitive development in children with Sanfilippo syndrome.
Executive Director, EAPM
Dr Denis Horgan is the Executive Director of the European Alliance for Personalised Medicine (EAPM). He builds and promotes networks of collaboration between different stakeholders, involved in developing an environment for personalized medicine at the EU and national level. He supports successful policies that foster activities for a more effective, targeted and safer therapies for patients across Europe. Prior to working with the EAPM, Denis worked with the European Cancer Patient Coalition (ECPC) and in the European Parliament on broad array of health issue relating to the pharmaceutical area and patient access.
Scientific Coordinator, European Joint Programme on Rare Diseases
Dr Daria Julkowska has over 15 years of experience in research and management. She is the Scientific Coordinator of the European Joint Programme on Rare Diseases that brings together different type of stakeholders (researchers, funders, clinicians & patients) from 35 countries from Europe and beyond, and also is responsible for the coordination of the IRDiRC Scientific Secretariat. This position allows her to implement the strategic rare disease research and funding recommendations of IRDiRC to the development of EJP RD which includes the participation of the European Research networks. She is involved in the rare diseases field since 2010, starting from E-Rare, the ERA-Net for Research programmes on rare diseases, where for the first two years she occupied the position of the project manager to finally (April 2013-December 2018) take over the coordination of the programme. As the coordinator, she developed and put into action a set of collaborations facilitating rare diseases research, including the partnerships with European Research Infrastructures and Patients’ Organizations. She has an extensive knowledge and understanding of European funding schemes and programmes.
Dr. Julkowska obtained her international PhD in molecular biology at the University of Paris XI, France and University of Gdansk, Poland in 2005. She pursued her scientific vocation by the post-doctoral experience in cellular biology, at Institut Pasteur, Paris and extensive training in communication and European Union counselling. She also holds MSc in Management of Research from the University of Paris Dauphine.
Member of Executive Board - Pharmaceuticals, GWQ Service Plus
Barthold Deiters is a Member of the Executive Board at GWQ Service Plus, a service provider for health insurance companies. He previously served as Head of Pharmaceuticals at GWQ Service Plus. He has extensive expertise in innovative contract design from the perspective of a health insurance company. Dr Deiters previously gained experience at the BKK Bundesverband in the department of Fixed Amounts and at the United IKK as Head of the Contracts Unit for Medicinal Products.
Founder, former CEO, EURORDIS
Yann Le Cam was one of the founders of EURORDIS in 1997, and served as the organization’s CEO from 2000 to 2024. Mr Le Cam is a patient advocate who has dedicated over 30 years of professional and personal commitment to health and medical research NGOs in France, Europe and the United States in the fields of cancer, HIV/AIDS and rare diseases. From 2016 – 2019, Yann Le Cam served as a member of the European Medicines Agency’s (EMA) Management Board. He was also one of the first patient representatives appointed to a committee at a medicines regulatory agency when he was appointed to the Committee for Orphan Medicinal Products (COMP) at the EMA, where he served for 9 years and was its elected vice-chair for 6 years. He also served on the Management Board and Executive Committee of the French HTA agency for 5 years. Additionally, Mr Le Cam is a member and immediate past chair (2013-2017) of the Therapies Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC).
Secretary General, EUCOPE
Alexander Natz is the Secretary General of the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE) in Brussels and advises innovative pharmaceutical and biotech companies, including start-ups, in regulatory, market access and pricing and reimbursement matters from the EU law and German law perspective.
Professor of Health Economics, University of Heidelberg/Head of Division, DFKZ
Prof Michael Schlander is a full professor of health economics at the University of Heidelberg and Head of Division of Health Economics at KFDZ (German Cancer Research Center). He is also the founding chairman of the not-for-profit INNOVAL (Institute for Innovation & Valuation in Health Care) in Wiesbaden (since 2005). In 2008, he was a co-founder of the German Society for Health Economics, and in 2012, he acted as scientific chair for the European ISPOR Congress in Berlin, which had more than 3,500 attendants. Prior to returning to academia in 2002, he had spent 15 years in executive roles in the international biopharmaceutical industry in Belgium, Germany, Switzerland, and the United States.
Partner, Fund+
Dr Alexandra Tolia is currently Partner at Fund+. Before joining Fund+, Dr Tolia led investments in private and public companies at PMV and Hunza Ventures, where she built strong Life sciences portfolios in Europe and the US. Alexandra is the author of high impact publications in the fields of neurodegeneration and cardiovascular disease and has served as board member in several companies active in biotech, diagnostics and medical technologies.
Scientific Coordinator, ERN for Connective Tissue and Musculoskeletal Diseases (ReCONNECT)
Prof Dr Rosaria Talarico is currently the Scientific Coordinator of the European Reference Network for Connective Tissue and Musculoskeletal Diseases (ERN ReCONNECT). She has extensive expertise as a rheumatologist in rare and complex diseases. She is the Coordinator of the Behçet Clinic Pisa in the Rheumatology Unit (Azienda Ospedaliero Universitaria Pisana). Prof Dr Talarico published about 50 international peer-reviewed clinical and scientific papers. She is also Assistant Editor of Clinical and Experimental Rheumatology.
Director, Dolon Ltd
Elena is a Director at Dolon Ltd, a strategic pricing and market access consultancy specialized in rare diseases and oncology, where she leads the policy work. Previously, she co-lead a Work Package in an EU-funded project IMPACT-HTA that developed guidance on appraising rare disease treatments, worked as a research officer at LSE Health, clinical trial unit coordinator at the University Hospital of Lausanne, and administrator of the Swiss Vaccine Research Institute. She completed a PhD in Social Policy at LSE, MSc in Health Policy Planning and Financing at LSHTM, and BSc in business administration at HEC Lausanne. She published more than 20 peer reviewed papers mostly on topics related to rare diseases, acted as Guest Editor for a themed issue in Value of Health on rare diseases and is an expert in the OrphVAL and OD Expert Group initiatives.
Professor Emeritus, University of York, York, United Kingdom
Michael Drummond is Professor of Health Economics and former Director of the Centre for Health Economics at the University of York in the United Kingdom. His main field of interest is in the economic evaluation of health care treatments and programmes. He has undertaken evaluations in a wide range of medical fields including care of the elderly, neonatal intensive care, immunization programmes, services for people with AIDS, eye health care and pharmaceuticals. He is the author of two major textbooks and more than 700 scientific papers. He has been President of the International Society of Technology Assessment in Health Care, and the International Society for Pharmacoeconomics and Outcomes Research. In October 2010 he was made a member of the National Academy of Medicine in the USA. He has advised several governments on the assessment of health technologies and chaired one of the Guideline Review Panels for the National Institute for Health and Care Excellence (NICE) in the UK. He is currently Co-Editor-in-Chief of Value in Health and has been awarded 3 honorary doctorates, from City University (London), Erasmus University (Rotterdam) and the University of Lisbon. He was a member of the Steering Group for the 2020-22 NICE Methods Review.
Government Affairs Director, EUCOPE
Victor Maertens is the Government Affairs Director for the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE), where he covers policy work in the area of Orphan therapies and Cell and Gene Therapy. Victor previously worked for Brussels-based consultancies, providing pharmaceutical companies, trade associations, and NGOs with advocacy, strategy, and communications advice. His experience and interests include ATMPs, antimicrobial resistance, OMP, blood policy, and neglected tropical diseases.
Head of EU Government Affairs, Alexion/AstraZeneca
Colin O’Donnell is currently Head of EU Government Affairs at Alexion/AstraZeneca.
Director of Public Affairs, EURORDIS
Rosa Castro joined EURORDIS in 2025 as Public Affairs Director. She supports the organisation’s public affairs strategy to advance policies that improve access to treatments for people living with rare diseases across Europe, working to address existing barriers and promote fairer, more coordinated access to therapies across EU Member States. She brings extensive experience in European health policy in academic research, teaching, advocacy and consultancy, where she has worked at the intersection of law, health, and innovation, with a focus on access to medicines. Rosa has a master’s and PhD in law and economics and an MA in Bioethics and Science. She was a postdoc fellow at the European University Institute in Florence and at Duke University in NC, USA. A native Spanish speaker, she is fluent in English and Italian and has working knowledge of French.
