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 O’Connor is Director Regulatory and Early Access Policy at The Association of the British Pharmaceutical Industry (ABPI). He joined the ABPI from the Medicines and Healthcare products Regulatory Agency in 2023. Dan has special interests in drug development, rare diseases, regulatory science, health innovation, patient engagement and drug repurposing. He competed higher medical training in Pharmaceutical Medicine and is Editor-Author of the Oxford Specialist Handbook in Pharmaceutical Medicine.

Dr Karres works as a Scientific Officer at the European Medicines Agency since 2009, working in different offices throughout the years, including the Innovation Task Force Office, the Paediatric Medicines Office and (currently) the Orphan Medicines Office.
Dr Karres holds a M.Sc. degree from the University of Massachusetts, Amherst (US) in Molecular and Cellular Biology (2002) and a joint PhD in Molecular Biology from the University of Heidelberg and the European Molecular Biology Laboratory in Heidelberg/Germany (2007).

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).

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.

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.

Maria Mavris first joined EMA as a seconded expert from a patient organisation in 2014 and then as a staff member from 2017. As part of the Public and Stakeholder Engagement department of EMA, her work focuses on involving patients all along the regulatory lifecycle and supporting them in their involvement as members of EMA’s scientific committees, as representatives of their organisations or as individuals with experience of living with a disease and its treatment.

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.

Tomek Grybek was elected to the EURORDIS Board of Directors in 2023. He is also a CEO of a patient organization called Foundation of Borys the Hero focused on strategic advisory for public entities. As a Patient Advocate Tomasz is involved as an e-PAG Member at ERN-ITHACA and Patient Board Member of MetabERN. Furthermore, he cooperates closely with the Rare Disease Centre of Medical University in Gdansk.
Tomek is a Member representing patients’ organizations nominated by the European Commission to the Paediatric Committee of the European Medicines Agency (EMA PDCO), a scientific committee responsible for activities on medicines for children.
He is a father of a child living with rare neurological disease called metachromatic leukodystrophy.
Tomek defines himself as an enthusiast of biography books, strong coffee and jazz music.

Julien Delaye joined EURORDIS in September 2019 as an intern and moved to the position of Public Affairs Assistant on the Rare 2030 project. He then became Public Health Policy Junior Manager and now holds the position of Patient Engagement Manager in HTA.

Working closely with the Director of Information & Access to Therapies & Health Policy Advisor, Julien is responsible for organizing the participation (awareness, training, monitoring) of people living with a rare disease and their representatives in the European Cooperation on HTA and in national HTA procedures, as well as participating in research activities in the HTA field where EURORDIS is invited to take a role.

Prior to EURORDIS, he worked as an event coordinator for European Calcified Tissue Society (ECTS), was a volunteer for Osteogenesis Imperfecta Federation Europe (OIFE) and was a marketing intern at Sanofi – Copenhagen.

Elvina Sakellariou is the Research Coordinator and Project Manager at Duchenne Data Foundation. She implementes operational policies and procedures and manages collaborative projects related to DMD data.

Dimitrios Athanasiou became a dedicated advocate for Duchenne Muscular Dystrophy (DMD) and rare diseases after his son’s diagnosis. Transitioning from a career in international business, he equipped himself with essential knowledge through the EURORDIS Summer School and the European Patient Academy of Therapeutic Innovation (EUPATI), where he later contributed as a Course Committee member. He played a key role in establishing the Greek EUPATI National Liaison Team and has been instrumental in strengthening patient advocacy networks both in Greece and internationally, serving on the boards of organizations such as the World Duchenne Organization and the European Patients’ Forum.

As a strong voice for rare disease patients, Dimitrios has actively engaged with regulators, health technology assessment bodies, industry, and academia to push for better access to treatments and care. He has served in influential roles, including as a patient expert for the European Medicines Agency (EMA) in DMD-related regulatory discussions and as a member of the Pediatric Committee (PDCO) until 2023. His continued involvement in the EMA’s Patients and Consumers Working Party (PCWP) ensures that patient perspectives remain at the forefront of decision-making. Through his leadership in various advocacy groups, he continues to champion the rights of rare disease patients to receive innovative and affordable treatments.