Eurordis - Rare Disease Europe

Annemieke Aartsma-Rus is a professor of translational genetics at the Leiden University Medical Center in the Netherlands. She was involved in developing the exon skipping therapy for Duchenne muscular dystrophy. Her work currently focuses on trying to improve this approach for Duchenne and to make it also applicable for patients with very rare brain diseases in an individualized setting. Annemieke likes to make research and science accessible to everyone and is involved in multiple efforts to educate patient representatives, like the EURORDIS summerschool and the Duchenne Patient Academy.

Dan’s eldest daughter Amelie was diagnosed with Tay-Sachs in 2011 at 15 months of age and upon finding that there was no dedicated advocacy group providing support for families affected by this disease in the UK he set set-up the Cure & Action for Tay-Sachs (CATS) Foundation with his wife Patricia. Since the group was launched, they have been able to grow The CATS Foundation so that it now offers a variety of services to its family members and has been actively involved in the research investigating therapeutic treatments for Tay-Sachs and Sandhoff disease. In addition to this, Dan is the one of the founding members and Chairman of the European Tay-Sachs and Sandhoff Charity Consortium (ETSCC) which brings together all the European patient groups leading the fight against the diseases and is part of the team establishing the GGGA, a global organisation bringing together all the advocacy groups for GM1 and GM2.

Daria Julkowska has a PhD in molecular biology and 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. She is the Scientific Coordinator of the European Joint Programme on Rare Diseases that brings together over 130 institutions representing different type 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. She is involved in the rare diseases field since 2010. She developed and put into action a set of collaborations facilitating research, including the partnerships with European Research Infrastructures, Patients’ Organizations and industry. She has an extensive knowledge and understanding of European funding schemes and programmes and serves as the chair of the Expert Group on support for the strategic coordinating process for European partnerships of the European Commission. In 2020 she received EURORDIS Black Pearls Award for the European Rare Diseases Leadership.

Dr Elliot Lilley is Programme Manager for the 3Rs in vaccine batch release and quality control testing at the UK National Centre for the 3Rs (NC3Rs). After a 15-year career in the pharmaceutical industry, he spent 9 years with the RSPCA animals in research department where he worked to promote refinement. He joined the NC3Rs in 2020 to work on a project to apply the 3Rs to batch testing of biologics, working closely with the WHO and a working group of international experts. He is a Fellow of the British Pharmacological Society and animal ethics editor of the British Journal of Pharmacology.

François Houÿez has worked as a patient advocate since the early 1990s (HIV/AIDS, Act Up -Paris and EATG) and joined EURORDIS in May 2003. He now works as Information & Access to Therapies Director & Health Policy Advisor.

He represents EURORDIS at the Patients’ and Consumers’ Working Party at the European Medicines Agency (EMA). He also represents EURORDIS at the Health Technology Assessment Network, and in CIOMS Working Group XI on Patient Involvement in the Development and Safe Use of Medicines.

François supervises EURORDIS’s programme for Community Advisory Boards (EuroCAB) and the European Network of Rare Diseases Help Lines.

He pioneered patient advocacy with the European Medicines Agency as part of the first patients’ delegation that engaged in dialogue with the Agency back in 1996 and has continuously been involved in the agency’s activities during the last 26 years.

François compiles trend information, and regularly fields questions from rare disease patients having issues with access to treatments (especially marketing authorisations, health technology assessment/pricing/reimbursement, compassionate use, shortages, and pharmacovigilance).

Heidi Carmen Howard is associate professor at University College Cork (Ireland) working on the policy, ethical, legal, and social issues (ELSI) of new technologies, in biomedicine especially in genetics and genomics. Her research focuses on using multi- and interdisciplinary approaches with a large emphasis on empirical research to study the challenges and implications of novel technologies (e.g. gene editing, next generation sequencing, AI) and their responsible translation for end users and society.

Holm Graessner has graduated in Biomedical Engineering, Cybernetics, Electrical Engineering, German Language and Literature, Philosophy as well as Business Administration. He received his PhD “Summa cum laude” in 2004 and, then, he obtained his MBA degree in 2008.
He has been Managing Director of the Rare Disease Centre, since 2010, at the University and University Hospital Tübingen, Germany. www.zse-tuebingen.de He is Coordinator of the European Reference Network for Rare Neurological Diseases (ERN-RND). www.ern-rnd.eu. Together with Olaf Riess, he coordinates the H2020 Solve-RD project on “Solving the unsolved rare diseases”. www.solve-rd.eu

Since 2020, as a fellow of the European Academy of Neurology (EAN) he has been a member of the management teams of the Neurogenetics Panel and the Rare Neurological Disease Coordinating Panel of the EAN.

In 2023, he received the EURORDIS Black Pearl Award for Leadership and the first Martha and Wilfried Ensinger Award.

Molecular Biologist and virologist by training I’ve worked in different biotech companies developing treatments for infectious diseases and cancer before joining AFM-Téléthon 13 years ago. I have been appointed last year as Director of the new Scientific Directorate of AFM-Téléthon called Operations and Scientific Innovation. We are leading the scientific strategy of AFM-Téléthon through 4 different departments. The Scientific evaluation department oversees the call for projects and the management of the scientific council. The Research and Development department manages the strategic projects, larger and long-term commitments to bring projects from bench to bedside through collaboration agreements. A new Department has joined us on databases, registries and clinical programs. And the international department is connecting all international partners, association and European structures with AFM.

After an unexpected disrupted career in finance and banking within a large international bank due to a PitNET (Pituitary Neuro Endocrine Tumour) Johan De Graaf became involved in the world of patient advocacy for the Dutch Pituitary Foundation. First he explored the national context of patient representation and he  quickly realised that rare diseases, by their very nature, require not only national cooperation, but certainly international cooperation. His patient advocacy journey continued with the Eurordis Summer, Winter and Leadership School, European Eupati Course. And nowadays I’m involved in Endo-ERN, Brain Foundation Netherlands, he works together with the National HTA and regulatory authorities, co-chair of de PAG Board of the European Endocrine Society, member of the Scientific Evaluation committee of EJP-RD. Also he’s involved in a number of research projects in both the paediatric and adult field of Endocrinology and finally he conducts research of the unmet social and medical needs of patients together with HCPs and PhD Candidates.

Julián Isla, a software engineer at Microsoft and founder of the European Dravet Syndrome Federation, established the Dravet Syndrome Foundation 15 years ago to develop treatments for Dravet Syndrome, a severe form of epilepsy. Additionally, he founded Foundation 29, a nonprofit focused on leveraging AI in healthcare. Despite not having a medical background, Julian, whose son Sergio has Dravet Syndrome, serves on the Orphan Drug Committee at the European Medicines Agency (EMA) and the Therapeutic Advisory Group for Eurordis. In Spain, he advises on rare disease research for Ciberer and the Carlos III National Health Institute. He also holds board positions in three Spanish nonprofits.

Rick joined Beacon (previously known as Findacure) as the charity’s third member of staff and first-ever Scientific Officer. His aim was to drive forward the charity’s work in drug repurposing.

Rick became CEO in 2017 and has since been involved in almost all of Beacon’s projects. He drives the organisation’s growth and strategy, and co-leads to work packages in REMEDi4ALL alongside EURORDIS. He has written articles, given talks and provided training across Europe focusing on topics as such as patient engagement in research, the repurposing of generic medicines, and rare disease policy. Rick proudly champions rare disease patient organisations, and is continually amazed by the work, knowledge, and commitment rare disease patient group leaders.

Before Beacon, Rick secured a PhD in Evolutionary biology at Cambridge’s Museum of Zoology and spent time educating both undergraduate and school aged students.

Shirlene Badger is passionate about the role of genomics in improving health and leads Global Patient Advocacy at Illumina Inc. In this role she leads the Patient Advocacy strategy and engagement across the fields of rare and undiagnosed genetic disease, reproductive health and oncology. At a young age she experienced the loss of her brother – and that experience of loss has fuelled much of her passion for advocacy and making a difference in healthcare. Trained as a medical sociologist, she spent over fifteen years leading academic research initiatives at the University of Cambridge, UK and elsewhere that sought to elevate the impact of patient voice in the development and implementation of novel and experimental medical technologies.

Dr Eduardo Tizzano, is a Pediatrician and Medical Geneticist and is Director of the Department of Clinical and Molecular Genetics at the Vall d’Hebron Hospital in Barcelona, Spain.

He has published extensively in the field of rare genetic diseases and neuromuscular disorders and is very active in academic and research activities at national and international levels. He collaborates with different neuromuscular and genetic centers and participates as PI and collaborator in clinical trials, projects and as professor in different educational initiatives.
He has close liaisons to regional, national and international patient support groups as well as scientific groups and societies. He is member of different ERNs including ITHACA, CRANIO, BOND , NMD and VASCERN.