Orphanet Europe
State of the Art of
Database and Services
Polish activity
Dorota Karczmarewicz, Krystyna Chrzanowska,
Małgorzata Krajewska-Walasek
Department of Medical Genetics
The Children’s Memorial Health Institute, Warsaw
www.orpha.net
Who are we…..
Orphanet is an international project aiming to help improve the diagnosis, care
and treatment of patients with rare diseases, and to provide information on
developments in research and new therapies.
The infrastructure and coordination activities are jointly funded by Inserm, the
French Directorate General for Health, and the European Commission. Certain services are
specially funded by other partners. Orphanet’s activities in each country of the network are
also financed by national institutions and/or specific contracts.
Orphanet is currently represented in 38 countries and coordinated in France by a unit
of the French Institute of Health and Medical Research (Inserm).
www.orpha.net
Orphanet was established in 1997
to address identified problems…..
Lack of information
Encyclopaedia of rare diseases
Scarce expertise
Directory of experts/clinics
Too few collaborations
Directory of research projects
Difficult recruitment
Directory of clinical trials
Isolation of patients
Directory of patient
organisations
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Rare Disease & European Union
Orphanet is mentioned in the documents of the
European Union on rare diseases (The Commission
Communication “Rare diseases: Europe’s challenge” of
11 November 2008 and the Recommendation of the
Council on an Action in the field of rare diseases of 8
June 2009) as the source of current information on rare
diseases inthe European Union and also as a strategic
element of any national plan/strategy on rare diseases
that each Member State is encouraged to develop by the
end of 2013.
www.orpha.net
Joint Action - ORPHANET Europe
1.04.2011 – 31.12.2014
In 2011, the Orphanet Europe Joint Action was launched
under the EU Health Programme. This instrument
combines funding from the European Commission and
each of the participating Member States. The Joint
Action began on the 1st of April 2011 and ended on the
31st December 2014.
The overarching aim of the Joint Action was to improve
and adapt the presence of Orphanet in each participating
country.
www.orpha.net
Poland in Joint Action Project 2011-2014
The beneficiary is
The Children’s Memorial Health Institute
Coordinating Team: Profs. Małgrzata Krajewska-Walasek
and Krystyna Chrzanowska
Information Scientist: Aleksandra Jezela-Stanek, M.D., Ph.D
and Dorota Karczmarewicz, Msc.
www.orpha.net
Joint Action - ORPHANET Europe
1.04.2011 – 31.12.2014
„Development of the European portal of rare
disease and orphan drugs”
The objective was to provide the community at large with an
inventory of RD, an encyclopaedia in as many languages as
possible, and a directory of expert services in the participating
countries.
The project to improve the update of the encyclopaedia and the
update of the directory of services, to put in place a process to
ensure swift management of translations, swift collection of data
and validation by national health authorities before publication.
The project is also to establish the governance that Orphanet
deserves to ensure its mission at international level.
www.orpha.net
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Orphanet Encyclopaedia
in 6 languages so far and a
selection of articles in Polish
A strong asset,
although not a unique resource
www.orpha.net
Encyclopaedia
2543 genes linked to 2544 diseases
• 2480 genes interfaced with UniProt KB
• 2521 genes interfaced with OMIM
• 2512 genes interfaced with Genatlas
• 2543 genes interfaced avec HGNC
2373 diseases indexed with Pubmed
9051 external links for 2599 diseases
573 articles in French of which 113 for the general public and
34 emergency guidelines (334 new articles including
2700 diseases indexed with clinical
signs
728 articles in English of which 9 emergency guidelines
500 summaries in Polish
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The database of Orphan drugs and substances
961 substances linked to more than 1137 orphan designations (EU and US)
133 European
Authorisations (of which 62 after orphan designation and 71 with no
previous orphan designation)
150 USA Marketing Authorisations
These substances have a designation/indication for more than 550 rare diseases
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The directory of expert resources in 38 countries
worldwide
2551 Research laboratories
4551 Research projects on 2216 diseases
5656 Expert centres
1760 Clinical trials for 500 diseases in 28 countries
1306 Registries
2392 Patient organisations
1633 Medical laboratories dedicated to diagnosis
27306 Medical laboratory tests for 4698 diseases and 1933 genes
17366 Professionals referenced in the database
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Register your activity
www.orpha.net
RD-ACTION 2015-2018
The Joint Action proposal
(RD-action) was successfully submitted
on time on the 29 January 2015
The beneficiary is
The Children’s Memorial Health Institute
www.orpha.net
RD-ACTION 2015-2018
General objectives
▪ Support the further development and sustainability of the Orphanet database
on rare diseases which is run by a large consortium of European partners and
is the biggest global repository of information about rare diseases.
▪ Contribute to solutions to ensure an appropriate codification of rare
diseases in health information systems
▪ To continue implementation of the priorities identified in Council
Recommendation 2009/C151/02 and the Commission Communication (COM
2008 679) on RD, with a view to ensuring the sustainability of the
recommended priority actions, and to support the work of the Commission
Expert Group on Rare Diseases by gathering expertise and producing data
necessary to its action.
www.orpha.net
thank you for your attention
and invite you to use the site of
www.orpha.net