The Brains4Brain Foundation is delighted to announce the launch of an ambitious initiative aimed at addressing one of the most critical challenges in healthcare today: the establishment of a concrete ecosystem for rare diseases. To this aim, we are organising a preparatory event to present our project to selected policymakers -other MEPs but also representatives from the European Commission and the Member States – and a wider range of stakeholders within the rare disease ecosystem.
This hearing, titled “Building a Research and Innovation Ecosystem for Rare Diseases”, was initially scheduled on Tuesday, 25 March but due to requests from several stakeholders who expressed a strong interest in participating but had prior commitments, we have decided to postpone the meeting to Tuesday, 29 April, from 14:30 to 16:30 in the European Parliament, Room P4B001 – Bruxelles.
A Collaborative Effort
This landmark event is convened by Vytenis Andriukaitis, Member of the European Parliament (MEP), in partnership with the Brains4Brain Foundation and a diverse coalition of stakeholders. It forms part of the public consultation launched by the European Parliament’s Committee on Public Health (SANT) and aligns with the EU4H-2024-PJ-03 Call under the EU4H Action Grants 2024.
Focus of the Hearing
The hearing is designed to inform future political and policy activities in the rare disease space and will explore the piloting of the Research and Innovation Union concept, as outlined in Draghi’s Report, specifically tailored to meet the needs of individuals living with rare diseases. The objective is to establish a robust ecosystem, anchored in European Reference Networks, fostering collaboration between institutional, public, private, and civil society stakeholders.
Key Objectives
- Promoting Scientific Excellence – Supporting fundamental research and attracting world-class talent in science and innovation.
- Enhancing Industrial Competitiveness – Strengthening partnerships between academia and industry to advance crucial technologies and strategic sectors.
- Implementing a Mission-Oriented Approach – Developing targeted solutions to improve the quality of life for the 36 million Europeans living with rare diseases (PLRD).
The Need for Collaboration
The challenges faced by healthcare providers and patients affected by rare diseases are multifaceted, and fragmented approaches have proven inadequate. There is a pressing need to align financial and non-financial incentives to secure sustainable, long-term investment in rare disease research and development.
This hearing provides a platform for key stakeholders to engage in meaningful dialogue, shaping future policy and political action in the rare disease sector.
The fight against rare diseases requires a unified and strategic approach, leveraging the collective expertise of researchers, policymakers, industry leaders, and civil society. By fostering collaboration and innovation, we can build a sustainable ecosystem that ensures better diagnosis, treatment, and care for millions of individuals. Together, we can drive forward a European Health Union that truly delivers for those affected by rare diseases.
We are excited to announce that this page will feature all the videos and pictures taken by participants during the B4B Annual Workshop and Special Celebration, held at Sidney Sussex College, Cambridge from September 9th to 11th, 2024.
In the spirit of David’s vision and dedication, we aim to once again breathe life into the B4B initiative.
We are pleased to announce the forthcoming 14th meeting of the Brains for Brain Foundation (B4B).
French and Canadian scientists make discovery that could affect diagnosis, genetic counselling and therapeutic approaches in patients with a rare conditionMontreal – Rare hereditary recessive diseases were thought to be expressed in off-spring only when both parents carry a mutation in the causal gene, but a new study is changing this paradigm. An international research team led by scientists at the University of Lorraine in France along with McGill University and the Research Institute of the McGill University Health Centre (RI-MUHC) in Canada discovered a new cause of a rare condition known as cblC, that they named “epi-cblC”. They reported it in patients from Europe and the United States. Patients who have cblC are not able to process *vitamin B12, leading to severe health problems.cblC is usually caused by two mutations – one inherited from each parent – in a gene called MMACHC. In some patients, the scientists found this disease actually results from a mutation on a single copy of the gene and the silencing of the second copy by a gene modification referred to as epimutation. This epimutation is produced by a mutation in an adjacent gene. Their findings, which were published this month in Nature Communications, may have an impact on diagnosis, and genetic counselling in families with genetic diseases, as well as in the development of new therapeutic approaches.