This section is dedicate to all types of European Initiatives that are related to the research on rare diseases.
ELIXIR is an infrastructure for biological information, supporting life science research and its translation to medicine, agriculture, bioindustries and society. ELIXIR unites Europe’s leading life science organizations in managing and safeguarding the massive amounts of data being generated every day by publicly funded research. It provides the facilities necessary for life science researchers - from bench biologists to chemo-informaticians - to make the most of ELIXIR rapidly growing store of information about living systems. Through the ELIXIR-EXCELERATE grant, ELIXIR partners are implementing a technical framework for the comparison and standardisation of services useful for rare-disease communities.
Which services are provided?
- ELIXIR Tools and Data Services Registry
This registry will help you to find the right analysis tool and resource for your research. It provides a comprehensive, up-to-date catalogue of databases and resources that are interactive, downloadable and offer programmatic access.
Click here to access the ELIXIR Tools and Data Services Registry
- ELIXIR Beacon service
Run as part of the Global Alliance for Genomics and Health, ELIXIR’s Beacon discovery efforts allow researchers to identify those ELIXIR datasets including genomes with alleles of interest and how to apply for access to these datasets.
- Data maintenance and sustainability
ELIXIR identifies core data resources that are essential to the larger international community and develops a robust framework to secure their long-term sustainability. ELIXIR Nodes can handle sensitive, personal data through the continued development of secure archives and provide comprehensive, end-to-end solutions for data privacy that go beyond simple download protection. If you want to securely store your data in professionally managed archives such as the European Genome phenome Archive (EGA) ELIXIR can support you.
- Accessing and computing on the large data-volumes from modern biology
If you are dealing with large amount of data (for example data from large-scale DNA sequencing projects, etc.), ELIXIR can provide you recommendations and solutions for these specialized life science data challenges in order to enable storage, transfer, copying, processing and accessing of data across Europe. ELIXIR’s secure transnational & cross-institutional Authentication and Authorization Infrastructure (AAI) and expertise in secure data transfer between sites can support your data storage and transfer needs on rare disease projects.
Why work with ELIXIR?
Rare disease research projects increasingly generate large volumes of complex and often sensitive human data. Effective data management plans are required so that maximum re-use can be made from the research. ELIXIR’s partners offer expertise in data handling, storage in sustainable archives such as the European Genome-phenome Archive (EGA), support in standards and interoperability and training on bioinformatics related resources. Partnering with ELIXIR is a sustainable way of ensuring that data generated on your project is stored securely and safely and can made available for re-use via Data Access Committees. Decisions around the granting of access to data are taken by DACs rather than database operators, so no control over data is lost.
How much does it cost?
Generally, ELIXIR data resources are free to access for users anywhere including researchers on E-Rare projects. For example, the EGA can be used as a secure archive for free, providing the existing service model matches project’s needs. However, if an E-Rare project is generating large amounts of data, requires specific cloud computing, hardware provisions or customization (submission interface, priority on data archive or providing a project portal) these may require a charge to carry out this work.
It is recommended to discuss at an early stage those data requirements with ELIXIR. It is also advised to inform ELIXIR of the meta data requirements for submission. Projects should also confirm that the Data Access Committee structure that applies to the EGA matches their needs.
Countries involved in ELIXIR:
- Full partners: Belgium, Czech Republic; Denmark; Estonia; EMBL; Finland; France; Israel; The Netherlands; Norway; Portugal; Spain; Sweden; Switzerland; United Kingdom
- Observers: Greece; Ireland; Italy; Slovenia;
ELIXIR headquarters contact point:
Find your national contact point by clicking on your country.
You have not found answers to your question, please send us your request and we will help you.
Looking for collaborations
For more information ABOUT E-Rare please contact:
Tel.: +33(0) 1 78 09 80 78
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France