On February 28, marking the 2025  Rare Disease Day, the European Parliament's Public Health Committee (SANT) kicked off its survey on rare diseases. 

The purpose of this public consultation is to provide a basis for the forthcoming work of the Committee in bringing a better understanding of the challenges of persons affected by rare diseases and views of persons working with or involved in rare diseases. 

The European Brain Council welcomes this initiative, as it demonstrates the SANT Committee's willingness to engage more on this crucial matter, echoing the calls from the community to place rare diseases higher on the EU health policy agenda. 

Despite progress, challenges persist for the 30 million individuals living with rare diseases in Europe. Notably, 70% of rare diseases begin in childhood, and the majority present neurological symptoms, contributing to immense unmet needs. Most of the over 6,000 rare diseases catalogued by Orphanet are of genetic origin. 

 Key challenges include: 

• High psychosocial and mental health impact on people affected by rare diseases and families. 

• Gaps in social care, heightened uncertainty during diagnostic odysseys, and decreased quality of life. 

• Limited understanding of disease mechanisms and heterogeneity of rare diseases. 

• Lack of biomarkers and limited therapeutic options. 

• Small patient populations and delayed diagnostics. 

• High cost of drug development and inequities in access to care. 

It is important to mention rare neurometabolic disorders, as many are treatable, particularly if diagnosed early, highlighting the critical role of timely recognition and intervention. Addressing these challenges requires a comprehensive approach that integrates medical, social, and policy interventions to enhance patient outcomes and quality of life. 

Furthermore, lessons learned from the Covid-19 pandemic underscore the urgency of strengthening digital health solutions and future-proofing health systems against similar circumstances. 

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The event aimed to bring together leading healthcare stakeholders and policymakers to address key questions in the domain of research, such as how the upcoming 9th Framework Programme can accelerate brain research across Europe, what measures can be taken in order to stimulate the development of new central nervous system drugs for treating brain disorders, and what can be done to address the concerns of patients.

FP9 & Missions

In view of the upcoming FP9 proposal, a wide range of independent experts provided recommendations on mission oriented research and how to gain the most out of EU-funded innovation programmes.  Recommendations to double the budget of the next Framework Programme have resounded across institutions: The “Lab – Fab – App” report, written under the leadership of Pascal Lamy, the European Parliament, Commission President Jean-Claude Juncker and European Commissioner for Budget Günther Oettinger. Additionally, Prof. Mariana Mazzucato provided guidance on how research and innovation can address global challenges in the recently released report “Mission-Oriented Research & Innovation in the European Union”. In light of these recommendations, the session “Missions and FP9” aims to facilitate dialogue amongst experts on the mission oriented approach of the European Commission and how the next Framework Programme can boost therapeutic innovation.

Keynote speaker Prof. Andrea Renda kicked-off the first session, giving an insightful presentation on Mission-Oriented Research and Innovation Policy in the EU. He explored EU research as it stands now, and where it could be winning and/or losing. Furthermore, he shared all the different programmes available and supportive of the brain, and called for continued collaboration.

EBC President Prof. Monica Di Luca called for the Brain to be recognised as a Mission, launching the EBC Brain Mission, which calls to ‘understand, fix and enhance’, referring to understanding the brain as the space race of the 21st century. The full Mission can be read HERE.

Newly appointed Director-General of the Directorate-General for Research and Innovation, European Commission, Jean-Eric Paquet, addressed the audience, giving insight into what’s ahead as the work to shape the next Framework Programme begins, speculating on how a mission-oriented approach could pan out.

The Value of Innovation

Developing effective treatments to improve the lives of those affected by brain disorders is extremely challenging. Despite decades of publicly and privately funded brain research, there is currently no treatment available to cure a wide range of mental and neurological conditions. What is more, research efforts do not always translate into tangible results for patients. In view of this, and in the light of the high burden that brain disorders impose on European society, the session on “The Value of Innovation” aimed to empower healthcare experts and stakeholders to present their views on issues that hinder therapeutic innovation and discuss potential solutions.

The session was introduced by EBC Treasurer Joke Jaarsma, and the morning began separated into the perspective of various stakeholders: patients, research, regulators and industry. These perspectives were shared by Hilkka Kärkkäinen (President, GAMIAN-Europe), Jacobo Santamarta Barral (Young Person’s Network at the European Multiple Sclerosis Platform), Prof. Sebastian Brandner (UCL Institute of Neurology), Dr. Marisa Papaluca (Senior Scientific Advisor, European Medicines Agency) and Dr. Christoph von der Goltz (Lundbeck).

A panel session followed, bringing in further stakeholder perspectives, with a discussion from payers, industry, researchers and policymakers. The panel was made up of Menno Aarnout (Executive Director, Association Internationale de la Mutualité), Matthias Wismar (Senior Health Policy Analyst, European Observatory on Health Systems and Policies), Nathalie Moll (Director-General, EFPIA), Prof. Colm O’Morain (Past President, Alliance for Biomedical Research in Europe) and Jaroslaw Waligora (Policy Officer, Directorate-General for Health and Food Safety, European Commission). The panel discussion was moderated by Dr Alexander Schubert (Executive Director, ECNP) and Margaret Walker (Executive Director, EUFAMI).

European Brain Research: Shifting Gears and Going Global

The third session drew focus to global initiatives and the potentials to increase collaboration at the international level, and aimed to provide an overview of the current global brain research initiatives and to allow experts to present their perspectives on how to further enhance cooperation at global level.

Many initiatives aimed at supporting brain research and improving the allocation of research funds were launched at global level in recent years. These efforts have the potential to significantly strengthen collaboration across disciplines and can therefore make a lasting difference for patients and scientists.

The session began with a welcome from Prof. Patrice Boyer, EBC Vice-President, and went on to an introduction on the global initiatives launched with the support of the European Commission by Dr Karim Berkouk, Acting Head of Unit, Non-communicable diseases and the challenge of healthy ageing, Directorate-General for Research and Innovation, European Commission.

This continued to examples of existing and potential collaboration, bringing together Dr. Ari Ercole representing the International Initiative for Traumatic Brain Injury Research (InTBIR) – concrete example of existing international collaboration and the work being done at the global level; Prof. Philippe Ryvlin, Co-Chair, Joint Task Force for Epilepsy Advocacy Europe, International League Against Epilepsy (ILAE) – exploring why epilepsy should be the next global initiative and the value of international collaboration and expanding to a more global level; and Dr. Helena Ledmyr, Head of Development & Communications, International Neuroinformatics Coordinating Facility (INCF)– introducing INCF as an organization and platform for neuroinformatics and the value of international cooperation.

Heads of global networks then gave insight into the scope and function of their organizations and how they are collaborating and cooperating both across Europe and worldwide. This included Prof. Philippe Amouyel, Chair, EU Joint Programme – Neurodegenerative Disease Research (JPND), Chris Ebell, Executive Director, Human Brain Project and Dr. Hella Lichtenberg, Senior Scientific Officer, ERA-NET Neuron.

The session was summed up and concluded by Prof. Wolfgang Oertel, EBC Vice-President, highlighting the vital need for collaboration on the brain.

We would like to thank everyone that was in attendance of the two-day event and for helping provide fruitful discussion.

Addressing the major burden on those living with brain conditions and the costs for European society requires an intensified research effort and the creation of novel solutions. The target of our proposed Brain Mission will be to decrease this enormous burden through better understanding of the physiology of the brain and disease states, relevant prevention strategies, as well as more generally, an increased awareness of the brain and its diseases.

Continued commitment to basic neuroscience research has advanced our understanding of the nervous system, with Europe successfully leading this effort designed to increase our understanding of the brain, as well as the practical and clinical application of this knowledge.

Engagement of the scientific and clinical community at all levels is required in order for the European population to benefit from discoveries and for advances in basic neuroscience to be translated into new diagnostic tools and treatments for brain disorders.

It is imperative now for the brain community to step up and call for the continued recognition of the brain and for the recognition of its importance in the upcoming Framework Programme (FP9). Help spread the Brain Mission far and wide and let’s continue to commit ourselves to advocating for the brain and for the 179 million people across Europe living with brain disorders.

See: BRAIN MISSION

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On 22 June, the EBC research project on the Value of Treatment of Brain Disorders (VoT) in Europe came to a close with the launch of a policy white paper including the data collected by 9 expert working groups.

Covering a range of mental and neurological disorders, the VoT study examined health gains and socio-economic impacts of best health interventions (pharmacological and psychosocial alike), and addressed the current early diagnosis and the treatment gap of the various brain disorders. The conference itself focused on addressing the burden of diseases and issues in the current health care system, the health services delivery and care pathways design and proposing evidence-based and cost-effective solutions to achieve high value for patients.

With the completion of the first VoT project, EBC provided the necessary policy recommendations to address the treatment gap and its consequences for patients and citizens at large.

EBC President Prof. David Nutt welcomed the full room by introducing the details of the project, and that the working groups worked on how to “close the treatment gaps for brain disorders”. “EBC is not only looking at the socio-economic impact and value of healthcare interventions, but is also emphasizing how timely care pathways need greater integration and how better collaboration can be achieved in the future for the benefit of those living with, or at risk of, a brain disorder,” Prof. Nutt pointed out.

Prof. Nutt went on to co-present the project with Prof. Günther Deuschl, President of the European Academy of Neurology, to discuss its intentions, development and findings. VoT wanted to explore bridging the early diagnosis and treatment gap, as despite the escalating costs of brain disorders, numerous needs of individuals at risk and patients are unmet, and around 8 out of 10 people living with a brain disorder remain non-treated or inadequately treated although effective treatments exist. Health services, generally, remain quite fragmented, and working groups collectively found that more patient-centred and seamless, interdisciplinary care is still needed. Furthermore, though there has been significant progress in brain research over the last 50 years, and basic and translational research are at a threshold for new findings with a major impact on treatment, continued investment into brain research remains as important and necessary as ever.

Prof. Patrice Boyer, EBC Vice-President, elaborated on both EBC and VoT’s Call to Action for more research on brain disorders and the need for a healthcare system transformation to implement a seamless, coordinated system of “care networks” at national, regional and local level. He continued to summarize the key policy recommendations that the VoT white paper concludes with: implementing best practice to improve the patient’s flow at healthcare level; basic, clinical and translational research is imperatively needed, now more than ever at research level; and converging action towards EU wide brain plan and promoting the set-up of knowledge hubs on a health policy and health system governance level.

Keynote speaker Mr. Martin Seychell, Deputy Director-General, Directorate General for Health and Food Safety, European Commission, remarked that sustainability of healthcare is an increasing issue, stating that there is “no social Europe without health”. Alongside second Keynote Speaker Dr. Line Matthiessen, Acting Director, Health Directorate, Directorate General for Research & Innovation, European Commission, the two pledged the EU Commission’s continued support for brain research.

The European Commission has significantly increased funding for research on brain diseases, with 5.3 billion euro ear-marked between 2007 and 2017. However, this sum, shared between the 165 million Europeans with brain disorders, works out at just over 3 euro per person per year.

On the side of economic analysis, EBC partnered with the London School of Economics (LSE) to produce economic evidence on the value of treatment of brain disorders to inform decision-making. Prof. Martin Knapp of LSE presented the “very strong” economic case for investing in treatment for brain disorders after carrying out an overarching analysis of the economic evaluation and case studies. Closing treatment gaps is widely beneficial – for patients, families, providers, payers, policy-makers – and the economic arguments need to be seen alongside other essential elements in shared decision-making, especially by these various stakeholders.

The project and all communication from the conference highlighted the main issue: there is no cure for most brain disorders. More and better research is needed to develop treatments and to provide for earlier intervention.

Presentations were given by all leaders of the nine working groups, which covered the patient journeys and economic analysis of Alzheimer’s disease, Multiple Sclerosis, Normal Pressure Hydrocephalus (NPH), Stroke, Headache, Schizophrenia, Parkinson’s disease, Restless Legs Syndrome and Epilepsy. This was done through a panel discussion of all working group leaders, as well as through a 2-hour poster presentation session during lunch, where working groups had the opportunity to present their work to smaller groups of attendees.

The working group’s analyses continued to be presented throughout the day, with the panel discussions moderated by journalist, Peter O’Donnell.
*Further details on individual case studies can be found below, and furthermore, in the white paper.

The second panel discussion brought together various experts to discuss the VoT research conclusions and policy recommendations. Representatives from organisations like the European Commission, European Parliament, Organisation for Economic Co-operation and Development (OECD) and European Observatory on Health Systems and Policies discussed the policy recommendations provided in the White Paper, and views by patient and carer advocates such as The European Federation of Families of People with Mental Illness (EUFAMI) and AGE Platform Europe gave depth to the conclusions found by the two-year study.

Mr. Omar Cutajar, Research Attaché of the Maltese Permanent Representation to the EU in Brussels, closed the conference with a short recap of the collaboration between EBC and the Maltese EU Presidency and the work that has been accomplished. He affirmed further support and called for further collaboration and continued work for brain research in the European Union.

The full day conference came to a close with final words from Prof. David Nutt, who thanked on behalf of EBC, all members and partners for being part of this challenging “journey”, and looks forward to future work together, the continuance of the Value of Treatment project, and for continued work in improving the lives of those living with brain disorders across Europe, and the world.

© Photos by Bart Decobecq

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*Epilepsy treatment gaps vary from 10-20 % in developed countries to 75% in low-income countries—well-coordinated and accessible services from first seizure to complex epilepsy surgery can result in reduction of mortality, improve quality of life and is cost saving.

Societal costs of Alzheimer’s disease in Europe are reaching an estimated 190 billion euro, and though brain pathology can now be detected 20 years before the onset of dementia, diagnosis is often made at a later stage of the disease and treatment is symptomatic only.

The large treatment gap of Schizophrenia can be closed by timely, effective and consequent prevention, treatment and management—and early intervention has also shown to improve outcome in a cost-effective way. Investing in research on optimizing interventions, in information systems, awareness building and destigmatization, in training of the mental health workforce, and in better access and delivery of health services are further prerequisites guaranteeing optimal health in severe mental disorders like schizophrenia.

Headache is the 3rd disability leading cause worldwide, and creates societal costs of over 100 billion euro per year. Specialist care is lacking, and the chronic disorder often remains undiagnosed, mistreated or underrecognized as a disorder.

Multiple sclerosis is the leading cause of non-traumatic disability worldwide, and places a societal cost burden of over 15 billion euro per year in the EU. Early treatment and a brain healthier lifestyle slow MS progression and indeed reduce the disease societal and health care costs—for example, lifestyle factors, such as cigarette smoking habit and low vitamin D serum levels, may accelerate disease worsening by 2-fold.

Parkinson’s Disease is the second most common neurodegenerative disorder, with approximately 1.3 million patients across Europe, and costs of €13.4 million per year. Diagnosis is still clinical, and delay of diagnosis averages at about 2.3 years. Furthermore, no preventive or disease-modifying treatments exist, meaning individualized care and access to new treatments can play a major role in the lives of patients. The working group concluded that the amount of disease-specific research funding should be allocated depending on the impact of the disease on the population and the economy of the respective society.

Normal Pressure Hydrocephalus (NPH) is a very common disease in the elderly, manifesting in around 5% of the population over 65. Unlike some of the other disorders covered by VoT, very effective treatment is readily available, but still NPH very often remains undiagnosed and very often untreated. NPH treatment is life-saving, improves the quality of life and is cost effective.

Moderate to severe Restless Legs Syndrome (RLS) affects 2.5% of the European population, and ranks 5th for socioeconomic disease burden of brain disorders in Europe as the costliest neurological disease according to the working groups’ findings. However, there is a still a lack of knowledge in diagnosing and treating RLS, meaning patients often go misdiagnosed and untreated. Policies aiming to increase disease recognition and search for new treatment strategies need to be intensified to reduce substantial societal cost.

Stroke is the leading cause of morbidity/mortality in Europe, but major treatment gaps still exist. 18% of strokes are associated with Atrial Fibrillation, the most common heart rhythm disturbance, yet AF generally remains undertreated. Furthermore, there is a low implementation of specialised stroke units across Europe, which leaves patients misdiagnosed or improperly treated upon onset of stroke. Past this, there is also low access to rehabilitation.

Read all working group findings in the policy white paper and individual working group poster presentations

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