Insights into rare disease research

1. Insights into rare disease research Research and Information Subgroup National Steering Group on a Rare Disease Plan for Ireland

2. Rare diseases • Less than 5 per 10,000 European popn. • Lifetime prevalence 6-8% (EURORDIS) • Point prevalence 2-3% (Orphanet) • At least 50% children • 30% of children with rare disease dying before their 5th birthday

3. Diversity to solidarity

5. For whose benefit?

6. Scope • Information – definition, coding, epidemiology • Research – basic, clinical, translational Clinicians - Better diagnostics, better treatments and improvements in symptom management and disease progression Patients and families - Limitation of disability, better quality of life, life expectancy

7. Purpose • Opportunities and challenges facing rare disease research and researchers in Ireland • Ways of supporting the development of rare disease research in the future • Priority areas– funding, facilities, networks, international collaboration, infrastructure, leadership, training and expertise

8. helen.mcavoy@publichealth.ie