Steering Group members are unpaid volunteers, and give their time on an in-kind basis.
The Steering Group first met in December 2021, and members were appointed for a two year period. Terms of Reference govern the work of the group.
Professor Hélène Dollfus is a University Professor and Hospital Practitioner in medical genetics and ophthalmology. She is currently Director of the medical genetics department of Strasbourg University Hospital, Coordinator of the French Rare Sensory Diseases Network, SENSGENE, and Coordinator of the Reference Centre for Rare Diseases in Ophthalmological Genetics (CARGO). Professor Dollfus is President of the Scientific Council of the association of patients Retina France and was awarded the Inserm Prix Recherche in 2014.
Dr Dorothée Leroux is a pharmacist and scientist, who has been the Project Manager for ERN-EYE since 2017, based at Strasbourg University Hospital. Previously Dr Leroux worked as Project Manager for the French Rare Sensory Diseases Network, SENSEGENE. She is passionate about innovation and life sciences, and completed her PhD in Life Sciences and Health, Haematology, at University François Rabelais, Tours.
Professor Maurizio Scarpa, MD, PhD, is the Coordinator of the European Reference Network for Hereditary Metabolic Diseases, MetabERN. He is the Founder and President of the Brains for Brain Foundation, a pan-European task force on brain and neurodegenerative diseases. Professor Scarpa is also the Director of the Coordinating Center for Rare Diseases at the Udine University Hospital and a Professor of Pediatrics at the Department of Women and Children’s Health at the University of Padova, Italy. Professor Scarpa’s medical degree and doctorate are in Pediatrics. He completed a postdoctoral fellowship in molecular biology and gene expression at the European Molecular Biology Laboratory in Heidelberg and in genetics/gene therapy at the Baylor College of Medicine in Houston. From 2017 to 2018, he was the Chairman of the European Reference Network Coordinators Group. He was also the Coordinator of the European Commission DG SANTE project InNerMeD-I-network (Inherited NeuRoMetabolic Diseases Information Network) which aimed to create a network of information on the diagnosis and treatment of Neuro Metabolic Disorders. His teaching and educational interests aim, amongst others, at the development of an innovative health approach for the diagnosis and treatment of metabolic inherited diseases.
Professor Franz Schaefer is Professor of Pediatrics and Chief of the Pediatric Nephrology Division at Heidelberg University Hospital. He received his M.D. in 1986 at Würzburg University Medical School. He performed research scholarships at the Institute of Child Health, London, the University of Virginia and Stanford University. His research interests include the genetic basis of hereditary kidney diseases, the physiopathology and prevention of kidney disease progression, the cardiovascular, metabolic and endocrine consequences of kidney disease in children, and the management of end-stage kidney disease by renal replacement therapy. He has served on multiple professional boards including the Councils of the International Pediatric Nephrology Association, the European Society for Pediatric Neohrology and the International Society for Peritoneal Dialysis. He has won several national and international prizes and awards, including the Recklinghausen Award and the IBM Innovation Award. Professor Dr Schaefer’s publication record encompasses 650 scientific articles and book chapters.
Professor Arzimanoglou is Director of the Epilepsy, Sleep and Pediatric Neurophysiology Department at the University Hospitals of Lyon, France, and Coordinator of the Epilepsy Program of the Epilepsy Unit at SJD Barcelona Children’s Hospital. He is also member of the DYCOG research team at the Centre de Recherche en Neurosciences de Lyon (France). His clinical and research activities are focused on: the pharmacological and surgical management of childhood epilepsies, the cognitive development and emotional regulation disorders in children with focal epilepsies. Professor Arzimanoglou is currently Chair of the ERN Coordinators Group.
Matt Bolz-Johnson joined EURORDIS in 2014 as Healthcare and Research Director, later becoming ERN and Healthcare Advisor. He leads on advocating for the rare disease community by shaping the development and delivery of ERNs. Specifically, Matt has ensured a patient centred approach is at the heart of ERNs, through developing European Patient Advocacy Groups formally linked to each ERN. Prior to joining EURORDIS, Matt worked for 14 years in the National Health Service in England, in both hospital and commissioning trusts, where he was responsible for strategy development, clinical turnaround, quality assessment and contracting across the full spectrum of healthcare. He was a National Commissioner for ultra-rare diseases and highly specialised healthcare services. He developed national clinical networks to improve equitable access, cost efficiency and clinical effectiveness, and to promote innovation for rare cancers, genetic conditions, rare paediatric conditions, transplantations and highly specialised mental health conditions.
International Research Initiatives
Dr Daria Julkowska is the Scientific Coordinator of the European Joint Programme on Rare Diseases, which brings together different types of stakeholders (researchers, funders, clinicians & patients) from 35 countries from Europe and beyond, and is also 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 ERNs. She has been 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 coordinator, she developed and put into action a set of collaborations facilitating rare diseases research, including the partnerships with European Research Infrastructures and Patient Organisations. 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 via post-doctoral experience in cellular biology, at Institut Pasteur, Paris and extensive training in communication and European Union counselling. She also holds a MSc in Management of Research from the University of Paris Dauphine.
Dr Ana Rath is the Director of INSERM, US14 – Orphanet. Dr Rath is a medical doctor and coordinates the global Orphanet network and the production of the Orphanet nomenclature, ontology and database. She coordinates the EU RD-CODE project that aims to promote the improved codification of rare diseases, she leads Pillar 2 of the European Joint Programme Co-Fund on rare diseases, and a work package in the EU Solve-RD project. She has previously coordinated the RD-Action, an EU Joint Action bridging data and policies for rare diseases and coordinated the Scientific Secretariat of the International Rare Disease Research Consortium.
Anton Ussi has been Operations & Finance Director for EATRIS since 2015. EATRIS is a pan-European translational research initiative involving ca. 115 biomedical research institutions in 14 countries. After a 5-year design period, EATRIS entered operations in 2014. Its 25-strong team in Amsterdam and beyond provides access to Europe’s top research facilities in translational medicine, manages complex public-private and public-public collaborations and provides services to pharma/biotech industry, academic researchers, research funders and charities.
Yanis Mimouni has been a Senior Project Manager of the European Joint Program on Rare Diseases (EJP-RD) at Inserm since 2019. He has previous experience as Clinical Research Coordinator and as a pharmacist. He holds a bachelor’s degree in pharmacy and a master’s degree in Clinical and Industrial Drug Development.
Rima Nabbout has been the Epilepsy program research leader at Imagine institute since 2018. She is also a medical doctor, professor of Pediatric Neurology and the coordinator of the reference center for rare epilepsies at Necker Enfants Malades. Rima holds a bachelor’s degree in medicine, specializing in Pediatric Neurology.
Toon Digneffe has worked at Takeda Pharmaceuticals since 2019, where he is currently Head of Public Affairs & Public Policy, Europe & Canada. Prior to his current role, he was Head of Public Affairs and & Public Policy for Takeda’s Rare Disease Franchise in Europe & Canada. Before joining Takeda, Toon was Head of Public Affairs at Shire, and held roles at Baxalta and Baxter. Earlier in his career, Toon served as a Parliamentary Assistant at the European Parliament. He is currently a Member of the Board of EUCOPE, as well as Chair of the EUCOPE Orphan Drug Incentives Expert Group. Toon is based in Brussels, Belgium.
Anne-Sophie Chalandon is the Global Rare Public Affairs – Rare Diseases Policy Head at Sanofi Genzyme. She has worked at Sanofi Genzyme for over 15 years, in roles with a number of responsibilities including public affairs and patient advocacy. She is currently Co-Chair of the EFPIA OMP Working Group. Anne-Sophie is based in Lyon, France.
Morgane Cuisenier is a Senior Manager Global Public Affairs & Patient Relations at Novo Nordisk. She has worked at Novo Nordisk since 2019. Previous roles include working at LEO Pharma A/S. She is a Member of the Future-Proofing Health Systems Committee of the European Health Parliament (7th edition). Morgane is based in Copenhagen, Denmark.
Gabriella Almberg is a Director, Global Policy Lead at UCB. She has worked at UCB since January 2021. Previous roles include working at Novo Nordisk as Associate Policy Director, and almost 7 years at the trade association, EFPIA. Gabriella is based in Copenhagen, Denmark.
Matteo Scarabelli has been a Senior Manager Market Access, HTA at EFPIA since 2022. Previously, he was a Patient Engagement Manager at EURORDIS – Rare Diseases Europe. He also has experience in competition, at the European Parliament, and in work with refugees. He has a master’s degree and a PhD in philosophy.
Leander Vranken is the Policy Officer of the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE). He focuses on Digital Health and other related policy areas. Before joining EUCOPE, Leander worked as a policy researcher at a Brussels based EU affairs consultancy in the EU public health sector where he was extensively involved in the policy monitoring of health-related legislative developments. Furthermore, Leander worked in Dutch national public affairs and EU regional policy for several NGOs based in the Hague and Brussels.
European Commission DG SANTE Observers
Ms Senn is Policy Officer and Team Leader at the Health monitoring and cooperation, Health Networks Unit, based in Luxembourg.
Chair of the Together for Rare Diseases Steering Group
Sheela Upadhyaya is a Special Advisor to FIPRA, and Chair of the Together for Rare Diseases Steering Group. Sheela has worked as an Associate Director of the Highly Specialised Technology programme at the UK National Institute for Health and Care Excellence (NICE) from 2015 to 2022, where she was responsible for running the programme to evaluate medicines and technologies for rare and ultra-rare conditions for commissioning in the National Health Service (NHS). Prior to joining NICE, Sheela commissioned rare and ultra-orphan disease services in the NHS, delivering improvements through collaborating with industry, clinicians and patient groups. Sheela sits on the board of the World Orphan Drug Congress, and has participated in several European projects such as ORPH-VAL European Working Group for Value Assessment and Funding Processes in Rare Diseases, working on its nine principles to help improve the consistency of Orphan Medicinal Products (OMP) pricing and reimbursement (P&R) assessment. Sheela was also part of the TRUST4RD tool designed to guide policy makers, health technology assessment (HTA) authorities, regulators and payers on a collaborative approach to optimise real-world evidence (RWE) and develop guidance on novel approaches to appraise OMPs. Sheela has a passion for partnership working and believes that collaboration across the sector is the key to delivering high quality outcomes for all.
Victoria has been an active participant in the generation of rare disease (RD) policies and policy-related outputs for a decade. She currently leads the knowledge-base activities of the Rare 2030 foresight project and previously led the policy arm of RD-ACTION, the EU Joint Action for RD. She has experience and understanding of a wide range of topics under the RD ‘umbrella’ and has contributed to the development of EU-level Recommendations around topics such as Cross-Border Genetic Testing; the Incorporation of RD into Social Services and Policies; Patient Registration and data collection; National Plans and Strategies; and, most prominently, European Reference Networks. She led RD-ACTION support for the conceptualisation and implementation of ERNs and is now co-lead of the new Newcastle Centre for Rare Diseases, which she brought to fruition in 2020, and which is now consolidating the broad range of disease-focused and methodological expertise in the Newcastle region, to optimise patient-centred research and innovation.
Clara Romero is an Account Director at FIPRA International, and leads the work of the Together4RD Secretariat. Clara has worked in European public affairs for almost ten years combining agency and in-house experience as well as experience as a parliamentary assistant to a Member of the European Parliament. She has extensive experience in building pan-European multi-stakeholder groups and supporting organisations in building their public affairs strategies.
Rosalind Kenward is an Account Manager at FIPRA International, and co-leads the work of the Together4RD Secretariat. Rosalind has expertise in supporting clients on multi-stakeholder projects related to ATMPs and rare diseases. She is a qualified lawyer in England and Wales.