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(ERN), this link will give you information on policies for ERN establishment or joining a network.
Education eLearning Modules
Welcome to the National Rare Diseases Office (NRDO) and the National Clinical Programme for Rare Diseases mini-module on Rare diseases. This module 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 5 videos – Rare Disease Basics, Rare Disease Policy, Inheritance Patterns, European reference networks, and finally Orphanet. The educational series is being finalised will be available in early March 2017.
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