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Rare Diseases

National Centre for Medical Genetics 5 Year Report 2007- 2011

National Centre for Medical Genetics (NCMG) Genetics This comprehensive report provides an insight into the specialist work carried out in the National Centre for Medical Genetics (NCMG) between 2007 and 2011. The data was compiled by nominated staff memb ...

Report of the Consultation for a National Rare Disease Plan for Ireland

3.7.2014 Report of the Consultation for a National Rare Disease Plan for Ireland This report presents findings from the National Consultation on Rare Disease overseen by the Institute of Public Health in Ireland on behalf of the Department of Health to in ...

National Centre for Inherited Metabolic Disorders

National Centre for Inherited Metabolic Disorders Screening, Inherited Disorder, Metabolic Disorders, Disability The National Centre for Inherited Metabolic Disorders is located at the Children's University Hospital, Temple St. It is the tertiary car ...

Health Service Executive Newborn Hearing Screening Programme

Health Service Executive (HSE) Screening, Hearing, Newborn baby In the South and South East of Ireland (Cork University Maternity Hospital, Wexford General and Waterford Regional Hospitals) parents of all babies born are offered a hearing screen for their ...

Irish Heart & Lung Transplant Programme Database

National Centre for Cardiothoracic Surgery, Mater Misericordiae University Hospital, Dublin Heart, Lung, Transplant, Database Since April 1999 the Department of Health have funded a heart/lung and lung transplant programme based at the Mater Hospital in D ...

National Newborn Bloodspot Screening Register

Health Service Executive (HSE) Newborn Bloodspot Screening (NBS) Register The National Newborn Bloodspot Screening Programme (NNBSP) screens all newborn babies for six conditions soon after birth, to ensure that any baby with one of these rare conditions ...

National Centre for Medical Genetics (NCMG)

National Centre for Medical Genetics (NCMG) Genetics The National Centre for Medical Genetics 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. The Centre, under ...

CRANE Database

Cleft Development Board Cleft lip and palate database The CRANE database is a record of information about children born with cleft lip and palate in England, Wales and Northern Ireland. The CRANE Database can be considered a continuation of the Craniofaci ...

Severe Chronic Neutropenia International Registry (SCNIR)

Severe Chronic Neutropenia International Registry Neutropenia register Neutropenia is a blood disorder, in which the number of neutrophils (white blood cells) in the blood is too low. The Severe Chronic Neutropenia International Registry (SCNIR) was estab ...

The National Haemophilia Database

United Kingdom Haemophilia Centre Doctors' Organisation (UKHCDO) Haemophilia Database The National Haemophilia Database (NHD) is a register of patients with bleeding disorders living in the UK, originally established in Oxford in 1968. This database ...

UK Cystic Fibrosis Registry

Cystic Fibrosis Trust Cystic Fibrosis Registry The UK Cystic Fibrosis Registry tracks the health of people with CF throughout the UK; its primary purpose is to help drive up the standard of clinical care. In 2007 the Cystic Fibrosis Trust implemented the ...

UK Epilepsy and Pregnancy Register

The UK Epilepsy and Pregnancy Register Registry for pregnant women with epilepsy The UK Epilepsy and Pregnancy register was established in 1996 for pregnant women in the UK. The major objective of the register is to obtain and publish information on the f ...

UK Renal Registry (UKRR)

UK Renal Registry (UKRR) Renal disease registry The UK Renal Registry (UKRR) is a resource for the development of patient care in renal disease. It was established by the Renal Association with support from the Department of Health, the British Associatio ...

National Pulmonary Hypertension Unit Database

Centre for Lung Health Pulmonary arterial hypertension register Pulmonary arterial hypertension includes a group of diseases incorporating Idiopathic Pulmonary Arterial Hypertension (IPAH) and PAH related to various underlying medical conditions.  With th ...

Northern Ireland Newborn Hearing Screening Programme Database

Public Health Agency (PHA) Database on newborn hearing screening The current newborn hearing screening programme in Northern Ireland, which has been in place since October 2005, is offered to all newborn infants. The aim of the screening programme is to r ...

Northern Ireland Newborn Screening Programme Database

Public Health Agency (PHA) Database on newborn screening In the first week after birth, all babies in Northern Ireland are offered screening ('heel prick test') for a range of inherited conditions including phenylketonuria (PKU), congenital hypo ...

RARECARE

RARECARE Surveillance of rare cancers in Europe ARECARE is a scientific research programme on rare cancers in Europe. Cancer specialists and other scientists are involved, but RARECARE is not a clinical trial and the researchers involved are not in a posi ...

Health Protection Surveillance Centre

Health Protection Surveillance Centre (HPSC) Communicable diseases The Health Protection Surveillance Centre (HPSC) is Ireland's specialist agency for the surveillance of communicable diseases. HPSC is part of the Health Service Executive and works i ...

Genetic and Rare Disorders Organisation (GRDO)

Genetic and Rare Disorders Organisation (GRDO) Genetic disorder, Rare disorders 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 ...

Orphanet

Orphanet Portal for rare diseases and orphan drugs Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases. O ...