Policy, Regulation and Social Science

Our unique role in European rare disease policy

We played a unique role in the conceptualisation and implementation of European Reference Networks for rare disease. We drafted EU-level recommendations on a range of topics to support the work of the European Expert Groups for Rare Disease. (See For Policy Makers for more details.)

As a Rare Disease Centre, we are:

• working to support the creation and updating of robust national strategies for rare disease. We work with national policymakers from across Europe (and beyond).
• building on our role in the Foresight Study Rare 2030. We will promote implementation of the future-facing policy recommendations we co-authored.
• exploring the potential for UK-level reference networks, while also co-developing a model for a WHO global network for rare disease.
• supporting policymaking in specific rare diseases. This includes access to therapies or screening.

New Research

We are very interested in undertaking new research in this broad area.

There is a major gap in terms of social research for rare disease. We need to:

• better assess the socio-economic burden of these conditions
• understand the lived experience of patients and families

We also plan to research models and strategies for providing more integrated, person-centred and holistic care. (See Care delivery for more details).

We plan to explore the unique regulatory and ethical challenges of rare disease. For instance, around access to new medicines and therapies. We can capitalise on the broad expertise across Newcastle.

A mother and daughter living with the same rare disease - our experts sometimes work with entire families, near and far.