28 February is Rare Disease Day 2023.The aim with the day is to raise awarenes and generating change for the 300 million people worldwide living with a rare direase, for their families and carers.
Rare dieases are also an important focal point for health policies and programmes in Europe.
Up to 36 million people in the EU live with a rare disease. There are more than 6000 distinct rare diseases in the EU.
So, whilst one rare disease may affect only a handful of patients, another may touch as many as 245 000. Around 80% of rare diseases are of genetic origin and, of those, 70% already start in childhood.
The EU’s strategic objective for rare diseases is to improve patient access to diagnosis, information and care. It assists in pooling scarce resources spread across the EU, enabling patients and professionals to share expertise and information.
The European response can best be characterised by a combination of key elements
- promoting the development of national rare diseases plans and strategies
- setting up and supporting European Reference Networks
- supporting the definition, codification and inventory of rare diseases
- supporting the designation and authorisation of orphan medicinal products
- building and broadening the knowledge base also through research
- empowering patient organisations
Within this context, the European Commission is focused on
- supporting Member States’ policies
- developing EU-level cooperation, coordination and regulation
- improving the recognition and visibility of rare diseases