Orphanet is a freely accessible on-line database dedicated to information on rare diseases and orphan drugs with the aim of improving the diagnosis, care, and treatment of patients with rare diseases. An expert-authored, peer-reviewed Encyclopaedia covers over 5,000 diseases. All articles are written in English and abstracts are progressively translated into the 6 languages of the web site: English, French, Italian, Spanish, German and Portuguese. National teams in over 30 countries are in charge of collecting rare disease service information at the country level to produce a Directory of Services which includes information on specialised clinics, clinical laboratories, research activities and support groups. For the benefit of health professionals, the website offers a clinical sign search tool to assist in the diagnosis of rare diseases. A clinical trial registration tool allows patients to register as volunteers to participate in research projects.
- Nowgen - A Centre for Genetics in Healthcare
Nowgen is a centre of expertise in genetics in healthcare, which sets out to inform and improve the practice of genetic medicine. Nowgen undertakes a range of research, training, and service development activities which aim to bring the benefits of recent developments in genetics into mainstream medicine. The European office in Nowgen is home to both the UK Orphanet coordinator and the DYSCERNE Secretariat.
For Patients and Families:
There are many patient organisations in Europe. They can be dedicated to one particular rare disease or a group of rare diseases. Some patient organisations represent a disease across several countries while others cover all rare diseases in one country. There are also organisations that help people when there isn’t a support group for a particular disease, or who don’t have a diagnosis. Comprehensive information on patient organisations including a list of National Alliances for Rare Diseases can be found on the Orphanet website and in the Orphanet Directory of patient organisations.
Patient organisations in Europe have recognised the advantages in working together in order to make an impact on national and European policies in the field of orphan drugs and rare diseases. The European Organization for Rare Diseases is an alliance of patient associations dedicated to improving the quality of life of all people living with rare diseases in Europe.
- Public Health EU - Rare Diseases
The main objective of this Portal is to provide European citizens with easy access to comprehensive information on rare disease initiatives and programmes at EU level.
- Contact a Family
A UK-wide charity providing advice, information and support to the parents of all disabled children - no matter what their disability or health condition.
For Healthcare Professionals:
European Surveillance of Congenital Abnormalities - A European network of population-based registries for the epidemiologic surveillance of congenital anomalies.
- European Skeletal Dysplasia Network
ESDN is an integrated research and diagnostic network of eight European centres of excellence established in January 2002 with funding from the European Commission's Fifth Framework Programme.
Contains relevant information with respect to gene mapping and genetic diseases.
A new project that will establish a European reference portal for genetic medicine bringing together many multimedia resources into a single organised site, enabling authors and educators to find, organise recombine and develop multimedia educational materials.