“The National Mirror Group was the first time patients had been treated as equal partners in this kind of forum, and it immediately changed the conversation”
Sandra Alves, a senior human-genetics researcher at the National Institute of Health Dr Ricardo Jorge (INSA), has coordinated Portugal’s National Mirror Group (NMG) for rare diseases since its creation in 2021. Under her guidance, this well-established NMG links policymakers, clinicians, scientists and patient organisations, channeling Portuguese priorities into European initiatives such as the European Rare Diseases Research Alliance (ERDERA). The group now plays a central role in aligning national efforts with the newly launched “Plano de Ação para as Doenças Raras 2025-2030”, helping Portugal make the most of international collaboration while improving care and research for people living with rare READ MORE
ERDERA diagnostics research task force showcases impact and ambition at ESHG 2025
The European Human Genetics Conference 2025 (ESHG) provided a significant platform for the ERDERA Diagnostics Research task force to share its strategic vision, scientific progress, and commitment to innovation in the field of rare disease diagnostics.
Europe’s rare-disease alliance charts next steps at Riga workshop
Delegates from 23 countries in Europe and beyond, together with scores of virtual participants, came together in Riga, Latvia, today for the European Rare Diseases Research Alliance (ERDERA) workshop entitled “How to maximise the power of national plans for rare diseases and strengthen their capacity to foster rare-disease research.” The event, which coincides with the close of ERDERA’s first year, focused on strengthening the alignment between national action plans and the wider European research agenda while accelerating the roll-out of National Mirror Groups, or NMGs.
ERDERA’s Networking Support Scheme opens to forge new rare disease and rare cancer alliances
The European Rare Disease Research Alliance (ERDERA) has launched its Networking Support Scheme (NSS), a continuously open call designed to knit together researchers, clinicians and patient advocates working on rare diseases and rare cancers. Proposals may be lodged at any time, but the first collection round will be assessed immediately after the 7 October 2025 deadline, allowing successful teams to start planning events without delay. Under the scheme, applicants can request up to €30 000 per networking event to cover meeting costs, travel costs, hybrid-meeting platforms and other essentials. Rounds will be held every six months until April 2029—or until READ MORE
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, when patients are invited to shape studies that ultimately affect their own lives. Patients, care providers and advocates in the rare-disease field often acquire in-depth knowledge of their conditions, combining technical insight with lived experience. “Their perspectives are recognised as vital in shaping, refining, and READ MORE
World Health Assembly adopts first-ever resolution on rare diseases, signalling a new era of global collaboration
On 24 May 2025, the Seventy-eighth World Health Assembly (WHA78) voted unanimously for the resolution “Rare diseases: a global health priority for equity and inclusion,” the first time the World Health Organization has formally elevated rare diseases to the top tier of its agenda. The text urges governments to integrate rare-disease policies in national health plans, expand newborn screening and timely diagnosis, and guarantee affordable access to medicines and assistive technologies under universal health coverage. It also encourages investment in digital tools, patient registries and centres of excellence, while promoting the active participation of patient organisations in policy design. Member READ MORE
“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.
New survey aims to give under-represented countries a stronger voice in rare-disease research
A new questionnaire, “Promoting capacity-development actions” – has been released under one of the teams developing the European Rare Diseases Research Alliance (ERDERA) team that focuses on harmonization of the different national capacities. The goal is simple but urgent: to capture first-hand evidence of the funding gaps, technical hurdles and policy barriers that still keep many low- and middle-income or smaller European nations on the sidelines of global rare-disease science.
ERDERA has received funding from the European Union’s Horizon Europe research and innovation programme under grant agreement N°101156595.
Views and opinions expressed are those of the author(s) only and do not necessarily reflect those of the European Union or any other granting authority, who cannot be held responsible for them.
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ERDERA is coordinated by Insem