Innovative Healthcare Delivery Programme

Rare Diseases

The IHDP approach to cancer data is now being applied to the area of rare diseases.

The IHDP team are partnering with NHS National Services Scotland as they link data on rare diseases. They are starting to build a Congenital Anomalies Register for Scotland called the Congenital Anomalies and Rare Diseases Registration and Information Service for Scotland (CARDRISS).


What benefits will CARDRISS provide? 

Establishing CARDRISS will bring a wide range of benefits, including:

  • Informing the planning of services for individuals affected by congenital anomalies
  • Providing early warning of changes in anomaly rates, possibly suggesting increased exposure of mothers to harmful chemicals
  • Providing information on the need for and impact of interventions to prevent anomalies, for example fortifying flour with folate to reduce neural tube defects such as spina bifida
  • Evaluating the effectiveness and impact of antenatal screening programmes
  • Providing enhanced opportunities for education and research in relation to the prevention of congenital anomalies and the care of affected individuals
  • Providing a platform for future expansion of rare disease registration

With support from IHDP, NHS National Services Scotland is now using Data Virtualisation  to link other health and social care datasets, including those relating to rare diseases. The learnings from developing the Scottish Cancer Registry and Intelligence Service directly support the creation of the CARDRISS. We hope this is only the beginning of taking learnings from cancer and applying to other healthcare areas.