Copy Number variations
Newly published Europa Web Page on “the European Reference Networks and Covid19”.
You will find there the description of the COVID-19 Clinical Management Support System (CMSS), with reference to the Statement issued by the ERN Board of Member States. The eNews (available in almost all EU languages plus Norwegian, last translations coping soon) under “Useful information” can be also circulate to other stakeholders or institutions in case you want to raise awareness on the existence of the service.We are also giving an insight of what each ERN is proposing. Please note that this section will be updated in the coming days, once we receive the information from the ERNs. Once we’ll get all those contributions and the web page is stable, we will translate it in all EU languages.
RD Information Databases
The following links are recommended for clinicians or healthcare providers seeking reliable information on rare diseases. All are accessible free of charge.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. This includes information on rare diseases expertise in Ireland.
Registering on Orphanet:
- Identify a Consultant clinical lead in a permanent role with your service
Register the service on Orphanet as a Centre of Expertise (www.orpha.net)
The Orphanet Quality Criteria Form describes the information required to register the service.
You can also read the guide for registering on Orphanet. If you cannot complete all sections at a minimum please complete the mandatory criteria.
Click here to see an example of a completed Orphanet Quality Criteria Form
To learn more about Orphanet read our Orphanet Overview for Clinicians
- Services registered on Orphanet are validated by Ophanet
More Information about Orphanet: The European Rare Diseases Portal
All Irish rare disease healthcare providers are recommended to maintain an up to date registration of their clinical centre of expertise on Orphanet including the completion of the Orphanet Quality questionnaire describing their multidisciplinary expertise in rare disease management. Assistance with registration is available through Orphanet Ireland 01 809 7448 or email@example.com
The US National Organization for Rare Disorders (NORD), provides patient friendly information and an index of physician guides for a number of rare diseases. It is important to note that treatment information will be American focused.
Online Mendelian Inheritance in Man (OMIM) is a catalogue of human genes and genetic disorders and is targeted at health care professionals and researchers.
PubMed is a searchable database of medical literature and lists journal articles that discuss rare diseases.
Genetic and Rare Disease Information Centre provides rare disease information for the US and is relevant for disease summary and management of rare disorders.
Gene reviews are expert authored peer reviewed disease descriptions focused on clinically relevant information on diagnosis, management and genetic counselling of patients and families with rare disease.
GeneTests is a medical genetics information resource developed for physicians, genetic counsellors, other healthcare providers and researchers. It has an international laboratory directory and clinic directory for inherited disorders.
European Reference Networks
European Reference Networks (ERNs) are virtual networks that enable clinicians and researchers to share knowledge, experience, medical research, teaching, training and other resources to help diagnose and provide highly specialised healthcare for complex, rare or low prevalence diseases. These networks use various communication avenues and eHealth tools to enable the mobility of expertise across borders, removing the need for patients to travel to access care and expertise that does not exist in their country. This joint initiative of the EC and European Member States, with support from the European Parliament, aims to address common challenges faced by professionals when diagnosing and providing highly specialised healthcare.
The European Commission website (Europa) now hosts a searchable interface with details about (ERNs):here
The information is accessed by clicking on the advanced search button using a modern web-browser. It includes the names and other details (Members, Associated National Centres – the Hubs will be included soon) on the ERNs and ERN clinical centres. Please note that no personal information is included, and that only functional mailboxes have been indicated for the ERNs that provided them.
You can search for information by selecting one or more ERNs, countries, or clinical units. Alternatively, you can select one or more ERNs, and then restrict the search to one or more countries or clinical units. The results are displayed as pins on a map with a list below it. Additional details for each result can be viewed when you click on the items in the list. For any content-related observations or suggestions please email SANTE-ERN@ec.europa.eu; Any technical issues encountered can be sent to the IT helpdesk:SANTE-ERNSD-ITSUPPORT@ec.europa.eu
Clinical trials are research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans. You can find specific information on ongoing clinical trials for rare diseases within Europe.
A European Clinical trials register provides information on ongoing rare disease trials.
Rare Disease Strategy and Policy
Across Europe there has been much work done in highlighting needs of rare disease patients in relation to access to reliable disease information, diagnosis and care, treatment and research. Through this many EU countries including Ireland have drafted a plan to highlighted the needs of rare disease patients and propose recommendations to better meet their needs and a plan to implement recommendations over the coming years. The first National Rare Disease Plan for Ireland, covering the years 2014-2018 sets out the background in Ireland for rare disease.
The National Clinical Programme for Rare Diseases was established in December 2013 in Ireland with Professor Eileen Treacy as the Clinical Lead. One of the programme’s first recommendations was the set up of The National Rare Disease Office.
There are national plans and strategies from European Commission (EC) relating to rare diseases that will help you understand EC policy in this area. Read more information on policy in rare disease in Europe.
If you are a health professional interestd in developing a European Reference Network the following link will give you information on policies for ERN establishment or joining a network.
Education for Healthcare Professionals
National Rare Diseases Office - e-Learning Modules
Welcome to the National Rare Diseases Office (NRDO) and the National Clinical Programme for Rare Diseases mini-module on Rare diseases. These modules will address an approach to the recognition and management of rare diseases. The aim of this series is to give an overview of the current Irish and European Rare Diseases policy and on how to access the appropriate information for patients and families affected with rare Diseases. The series is divided into 6 sessions – Rare Disease Basics, Rare Disease Policy, Inheritance Patterns, Congenital Anomalies, European reference networks, and finally Orphanet.
Rare Diseases - Recognition and Management
Rare Diseases - EU and Irish Policy
Rare Diseases - Inheritance Patterns
Rare Diseases - Congenital Anomalies
Rare Diseases - European Reference Centres; Expert Centres
Rare Diseases - Orphanet
Understanding Genetics’ 28 video series, Prof Sally Ann Lynch has produced two additional short animations Understanding Copy Number Variations
GenEquip Project - Genetics Education for Health Professionals
The Gen-Equip project https://www.primarycaregenetics.org is a project combining education, primary care and genetics. The aim is to enable health professionals who are working in primary care to update their knowledge and skills in genetics with education including case-based modules, free of charge to health professionals who want continuing medical or professional education in genetics available at www.primarycaregenetics.org
Medics4RareDiseases is a not-for profit (NFP) organisation based in the UK that is driving an attitude change to rare diseases amongst medical students and doctors in training. We're doing this to improve the journey through healthcare for those living with rare diseases and their families. We also believe that we can shorten the length of time to diagnosis by making doctors aware of the prevalence of rare diseases as a whole: they are individually rare but collectively common. Therefore doctors should be coming across rare diseases regularly in their career. We do this by working with patients, patient groups and healthcare professionals. We host a big event each year with The Genetics Section fo The Royal Society of Medicine and we help other groups create their own events. We use social media and our website to promote rare disease education and to raise awareness of different rare diseases. We also collaborate with Findacure on The Student Voice Essay Competition each year
Genomics Education UK
Rare Disease: The GP's role
Rare Disease: A family's journey
Rare Disease: The power of a genetic diagnosis
Model of Care for Rare Diseases This document was developed by the National Clinical Programme for Rare Diseases
The Model of Care for Transition
The Model of Care for Transition from Paediatric to Adult Healthcare Providers in Rare Diseases has been developed to assist healthcare professionals who provide care for young adults with rare diseases. It outlines guiding principles to support the successful transition from paediatric to adult healthcare providers.
The area of rare diseases involves highly specialised care. A rare disease is defined as a disease or disorder affecting fewer than 5 in 10,000 people. There are an estimated 6,000-8,000 known rare diseases affecting up to 8% of the total EU population. This represents up to 300,000 people in Ireland.
The national clinical programme for rare diseases would like to sincerely thank the healthcare providers, clinical programme teams, patient support groups and individuals who contributed to the development of the model of care. We hope the documents attached are useful for service planning and for clinical teams as they support young people in their transition journey
summary-moc-for-transition-rare-diseases.pdf (size 513 KB)
Patient summary for transfer to an adult healthcare provider
Guide for planning the transition of young people with a rare diseases from paediatric to adult healthcare services
IJMS Publication The National Rare Diseases Office published a paper in the Irish Journal of Medical Sciences (2019) ‘Primary Care management of Rare Diseases in Ireland’, a retrospective (2013-2017) cross–sectional survey of primary care consultations for patients with 22 commonly recognised rare diseases and open access link
EUROPLAN National Conference Ireland – Final report 2011
Rare Disorders without Borders – Rare Disease Day 2013
EUROPLAN 2nd National Conference Ireland – Final Report 2015
National Rare Disease Plan for Ireland 2014-2018
HSE Clinical Strategy and Programmes Division National Clinical Programme for Rare Diseases Workshop on Clinical Research in Rare Diseases-23 February 2018- Workshop Report