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.
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 focussed.
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.
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 Networks (ERNs), this 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 covering: Understanding Copy Number Variation
and Variant of Unknown Significance (VUS)
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
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.
model-of-care-for-transition-from-paediatric-to-adult-healthcare-providers-in-rare-diseases.pdf (size 718.2 KB)
summary-moc-for-transition-rare-diseases.pdf (size 513 KB)