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Rare diseases in Ireland and Northern Ireland

About

A rare disease, also referred to as an 'orphan' disease, is considered as a disease which affects less than 5 per 10,000 of the European population. Most rare diseases are genetic, and commonly present in childhood. They are characterised by a diversity of disorders and symptoms that vary not only from disease to disease, but also from patient to patient suffering from the same disease.

The purpose of this rare diseases page is to raise awareness of rare diseases across the island of Ireland and to sign-post users to data sources on rare diseases on the island.

Policy context

In compliance with the Council of EU Health Ministers recommendation, the Department of Health is developing a National Rare Diseases Strategy for Ireland. IPH was asked to assist the Department in this task. The Department of Health, Social Services and Public Safety is contributing to the development of a UK-wide Rare Disease Plan.

To access presentations from the Insights into Rare Diseases Research Seminar held on the 26 March 2012, please click here.

Data sources

Most rare diseases are not routinely recorded in mainstream health information systems as they are not well-served by the International Classification of Disease (ICD-10) coding system.

A full mapping of data sources on rare diseases on the island has not been undertaken. However, a preliminary list of major data sources has been compiled below. Click on the links below to get more details.

If there are other data sources that you think should be included, please let us know by emailing data-manager@thehealthwell.info.

Selected rare disease registries or databases for rare diseases

European Surveillance of Congenital Anomalies (EUROCAT)

UK Renal Registry

National Cleft Database

UK Cleft Lip and Palate Database (CRANE)

Cystic Fibrosis Registry of Ireland

UK Cystic Fibrosis Registry

Irish Epilepsy and Pregnancy Register

Irish Heart & Lung Transplant Programme Database

UK Epilepsy and Pregnancy Registry of United Kingdom

Irish Childhood Diabetes National Register

Irish Motor Neurone Disease Register

National Alpha-1 Antitrypsin Deficieny Registry

National Haemophilia Database - UK

National Haemophilia Register 

National Hepatitis C Database

National Renal Transplant Registry of Ireland

National Newborn Bloodspot Screening Register (Republic of Ireland)

Newborn Screening Programme (Northern Ireland) Database

Newborn Hearing Screening Programme (Republic of Ireland) Database

Newborn Hearing Screening Programme (Northern Ireland) Database

National Paediatric Mortality Register

National Pulmonary Hypertension Unit Database

Severe Chronic Neutropenia International Registry

 

Selected Health Information Systems that contain some details of rare diseases

National Cancer Registry Ireland (RARECARE) (data on rare cancers)

National Perinatal Reporting System (NPRS)

Northern Ireland Cancer Registry

National Perinatal Reporting System (congenital anomalies)

National Physical and Sensory Disability Database (NPSDD)

 

Some relevant organisations and websites

The Genetic and Rare Disorders Organisation (GRDO) is a non-governmental organisation acting as a national alliance for voluntary groups representing the views and concerns of people affected by or at risk of developing genetic or other rare disorders.

Information on rare communicable diseases can be sourced through the Health Protection Surveillance Centre.

European data on rare disorders is managed on the Orphanet database.

The European Organisation for Rare Diseases, EURORDIS, is a patient-driven alliance of patient organisations and individuals active in the field of rare diseases representing more than 510 rare diseases patient organisations in over 48 countries.

Rare Disease Day is an awareness-raising event co-ordinated by EURORDIS at the international level and the National Alliances of Patient Organisations at the national level.

The National Centre for Inherited Metabolic Disorders is located at the Children's University Hospital, Temple Street, Dublin, and is the tertiary care referral centre for the investigation and treatment of individuals suspected of having metabolic genetic disease in Ireland.

The National Centre for Medical Genetics  based in Our Lady’s Children’s Hospital, Crumlin, Dublin seeks to provide a comprehensive service for all patients and families in the Republic of Ireland affected by or at risk of a genetic disorder.

IPPOSI -  A partnership of Patient Groups/Charities, Science and Industry on the island of Ireland. As a patient led partnership, the platform provides a structured way of facilitating interaction between the three key membership groups (patients' organisations, scientists and industry (and where possible with State Agencies) on policy, legislation and regulation around the development of new medicines, products, devices and diagnostics for unmet medical needs in Ireland.

NIRDP – Northern Ireland Rare Disease Partnership - a not for profit organisation, bringing together those living with a rare disease and organisations representing them: clinicians and other health professionals; researchers and producers of specialist medicines and equipment; health policy makers and academics.

 

Updated: 19th April 2012.

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