Orphanet is the world-reference portal dedicated to information on rare diseases (RD) and orphan drugs (OD) It was created in 1997 at the French National Institute of Health and Medical Research in Paris. It is coordinated by INSERM US 14 and the network involves now 38 countries.
The overriding aim of ORPHANET is to provide the community at large with a comprehensive set of information on RD and OD and attached services in Member States, to contribute to the improvement of the diagnosis, care and treatment of patients with RD.
Orphanet includes an inventory of 6000 RD, an encyclopaedia in 6 languages, a directory of health professionals (17000), expert clinics (5600), medical laboratories (1600), clinical trials (1700), research projects (4500), networks, registries (1300), patient organisations (2400), and information on OD and on drugs intended for rare diseases. All the MS have now an Orphanet national website published in their national language(s). The encyclopaedia of RD is available in English, French, German, Italian, Spanish, and Portuguese,Dutch, and for some diseases in Finnish, Greek and Polish. The portal is accessed daily by over 20,000 users from over 200 countries. Half of them are regular users. More than 10,500,000 documents are downloaded every year.
Orphanet has been developed through several rounds of funding, to include EU co-funding alongside other resources. In its current development phase, the network aims to develop tools for the partners as to empower them to collect data at national level and publish them, and in general tools to upgrade the quality of the database and ease its update and validation. In addition, the current 2014 work plan requires further work on the inventory and classification of RD, which has proven difficult due to delays in the overall review of the International Classification of Diseases.
Currently, Orphanet is co-funded through the ORPHANET Europe JA (alongside other funding sources –see section 1.5.5.). The activities which are included in the ORPHANET 2014 Operating Grant do not in any way overlap with those that are implemented through the Joint Action, which ends on 30/03/2014.



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EURORDIS is a patient-driven alliance of Patient Organisations(POs) and individuals active in the field of rare diseases (RDs). It represents the voice of approximately 30 million citizens in the EU.

EURORDIS` mission is to build a strong pan-European community of POs and People Living With RDs (PLWRD), to be their voice at the European level and to fight against the impact of RDs on their lives.

To this end, EURORDIS undertakes activities on behalf of its members:

• Empowering RD patient groups
• Advocating RDs as a public health priority
• Raising public awareness on RDs
• Improving access to information, treatment, care and support for PLWRD
• Improving quality of life
• Encouraging good practices in relation to these issues
• Promoting scientific and clinical research on RDs
• Promoting the development of treatments and medicines for people with RDs

EURORDIS plays a pivotal role in:
- the implementation of the EU strategy on RDs(Commission Communication and Council Recommendations), through its participation in the EU Committee of Experts on RD (EUCERD), as well as in the elaboration and monitoring of National Plans/Strategies on RDs
- the shaping and implementation of:
the specific EU health policies and legislations impacting on the RD field (EU Directive Cross Border Healthcare) through development of European Reference Networks for RD, as well as participation in the EUnetHTA Stakeholders Forum;
the EU Regulations on Medicines (Orphan Medicinal Products, Paediatrics, Advanced Therapies) through participation in the EMA Scientific Committees which also serves at improving the EU framework for drug development, approval and access to address RD patients` needs
- the revision of EU legislation on Clinical Trials, Data Protection and Transparency.
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The EUCERD (EU Committee of Experts on Rare Diseases) is mandated to assist the EC in formulating & implementing the Community`s activities in the RD field, to foster exchanges of relevant experience, policies & practices between the MS & stakeholders.

The general objective of this JA is to support this mandate.

Specifically this JA will address the following priority areas of the recommendation:
a. Enhancing visibility and recognition of RD;
b. Contributing to the development and dissemination of knowledge on RD, from specialized research, through to the support of the healthcare professionals and the empowerment of patients;
c. Contributing to improvements in access to quality services and care, from diagnosis, through to care and social support and innovative therapies.

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The project will develop common training curricula and capacity-building programmes in HIV/AIDS. The training will cover a broad range of relevant topics in HIV/AIDS treatment and management, combining on-site training with online distance learning methods. After piloting, the curricula will be incorporated in the networks and disseminated to a broader stakeholder audience.
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RDPortal2 aims to provide the community at large, via a user-friendly portal in 5 languages, with comprehensive information in order to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases (RD), and to map healthcare services in the EU and build indicators An inventory of RD and an encyclopedia of RD aims to help involve the international community in producing knowledge on RD. RDPortal2 aims to improve knowledge of the characteristics and epidemiology of RD by collecting and disseminating this information. A tool to retrieve possible diagnoses through a search by clinical signs and symptoms will assist diagnosis. A directory of professional services throughout Europe is provided with the aim of contributing to the appropriate use of expert clinical services and promote quality assurance in laboratories offering medical genetic testing. A directory of patient organisations will help fight isolation and empower patients. Comprehensible information on the stage of development of orphan drugs and their availability in MS will be provided.
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