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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