“If we can remove some of the barriers to accessing education—both visible and invisible—then we could support people with rare diseases in the right way”
My name is Sofie Skoubo, and I’m a PhD student at the Department of Public Health, Aarhus University, The Danish National Rehabilitation Center for Neuromuscular Diseases and cooperate with the Norwegian company No Isolation. Since 2020, I have worked with telepresence robots for children with cancer, neuromuscular diseases, and anxiety, and my research focuses on educational support with the help of the telepresence robot AV1 for students with neuromuscular disease. Besides that, I am a patient with neuromuscular disease and a two-time Paralympian athlete, recently taking part in the 2024 Paris Paralympic Games.
“I hope ERDERA solidifies the mindset that no single group—be it clinicians, patients, researchers, public authorities, or private entities—can succeed alone”
My name is Alexandre Méjat. I’m a patient by birth; I’m affected by a rare disease called Bethlem myopathy. I’m also a scientist by training: I have a PhD in biology, and I represent AFM-Téléthon in ERDERA, which is a patient organisation from France dedicated to neuromuscular diseases—but more broadly to all rare diseases.
Upcoming workshop: Unlocking the complexity of rare diseases through knowledge graphs
Understanding the intricate biological mechanisms underlying rare diseases remains one of the greatest challenges in biomedical research. In response to this complexity, ERDERA is pleased to host the Rare Disease Maps Workshop—a two-day virtual event designed to explore how knowledge graphs and disease mapping can advance research in this field.
ERDERA training for young advocates for rare diseases – Open call for participants
ERDERA is excited to announce a unique two-day, in-person training event in Athens, Greece, designed for young advocates for rare diseases aged 12 to 18 years with essential knowledge and skills to actively contribute to paediatric clinical research.
Rare disease experts to gather in Warsaw to shape Europe’s future strategy
A conference entitled “Towards an EU Action Plan on Rare Diseases” will be held on 10 April 2025 at the Medical University of Warsaw, Poland, under the auspices of the Polish Presidency of the EU Council. Organised by the Polish Ministry of Health, the European Economic and Social Committee (EESC), and the Medical University of Warsaw, the event will mark an important step in shaping future European policy on rare diseases. This high-level meeting will bring together policymakers, researchers, clinicians, and patient representatives to discuss key priorities for a European action plan. With national strategies evolving, the focus now shifts READ MORE
ERDERA joins the 5th International Conference on Rare Diseases
On 27–28 March, ERDERA will participate in the 5th International Conference on Rare Diseases, held in Athens, Greece. ERDERA’s Scientific Coordinator, Daria Julkowska, will be among the esteemed speakers at this event, organised by Rare Diseases Greece (RDG), EURORDIS-Rare Diseases Europe, and Boussias Events, with the support of ERDERA. This conference will focus on the theme: “Sustainability in Action: Rethinking the Rare Disease Paradigm from Prevention to HTA and Access.”
ERDERA at the Chan Zuckerberg Initiative workshop on systematically characterising rare diseases
ERDERA coordination participated in the Chan Zuckerberg Initiative’s “Building a Roadmap to Systematically Characterize Rare Diseases” workshop, taking place March 24–26 at CZI Headquarters in Redwood City, California.
Advancing rare disease diagnosis: Insights from Vicente Yepez at the RE(ACT) Congress and IRDiRC Conference 2025
The RE(ACT) Congress & IRDiRC Conference 2025, an international platform for knowledge sharing on rare and orphan diseases, has been a catalyst for scientific collaboration and advancement since its inception in 2012.
EMA warns of unregulated advanced therapies in the EU
The European Medicines Agency (EMA) and the Heads of Medicines Agencies (HMA) have jointly issued a clear warning about unregulated Advanced Therapy Medicinal Products (ATMPs). While these therapies—based on genes, tissues or cells—offer genuine promise, its limited regulation procedures raise serious health and safety concerns. Authorities urge patients to confirm that any ATMP is approved through official channels to avoid potential risks.
Latest Developments in Good Clinical Practice: Public Consultation on ICH E6(R3) Annex 2 & WHO Human Genome Data Governance
The landscape of clinical research and genomic data governance is evolving rapidly, with two significant developments shaping the future of global health research and regulatory frameworks: the ongoing revision of the ICH E6 (R3) Good Clinical Practice (GCP) guideline and the recent release of WHO guidance on the ethical collection, access, use, and sharing of human genome data.
ERDERA launches survey to put rare-disease patients at the heart of research
ERDERA’s patient-engagement working group has opened an online survey to gauge how rare-disease patient organisations experience their role in publicly funded research, including projects financed under ERDERA’s predecessors, EJPRD and the E-Rare schemes. The questionnaire—already available here—will stay live for six to eight weeks and seeks first-hand assessments of what works, and what falls short, READ MORE