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Skip to main content. Log In Sign Up. Final Implementation Report Start Date: Miguel Del Campo Prof. The information provided on rare diseases is comprised of the name, general description, prevalence rate in the community, synonyms, symptoms, causes, epidemiological data, preventive measures, standard treatments e. This information has been made available through two products: Project Goals The project goals included an increase in number of the Orphanet website users, an increase in the number of Encyclopaedia entries and an increase of data in the Directory of Services.
At the beginning of this contract, 1 Aprilthe Orphanet website was accessed by an average of 4, independent users per day from all over Ggenetica. At that time, the Encyclopaedia of rare diseases was available both in English and French and translation into German, Italian, Spanish and Portuguese was projected. The Encyclopaedia covered diseases with abstracts in French and mirvea English for all and a review article for of them, either in French or in English.
The goal was to cover 1, diseases in English by The goal was to expand data collection to include medicaala trials and research projects in these countries. Another goal was also to expand data collection to include diagnostic laboratories, specialised clinics, research projects and clinical trials in Bulgaria, Cyprus, Denmark, Estonia, Finland, Greece, Hungary, Lithuania, Ireland, Netherlands, Romania, United Kingdom.
The success of this project was to be measured both in terms of the increase in volume of information published on the website and in terms of number of users of the website. Achievements The volume of users of the website has dramatically increased. At the end of Marchthe average number of visits per day was approximately 22, from over countries. Two-thirds of these users are professionals, and one-third is patients and families. The percentage of satisfied users is Orphanet is now the most highly accessed website in the world in the field of rare diseases.
The Encyclopaedia has since expanded as planned.
The data collection of services is continually in progress in all participating countries. As of March the Directory of Services included data concerning: In conclusion, the project has developed according to plan and even surpassed initial expectations in the number of website users, the number of summaries published in the Encyclopaedia, and the data collected in the Directory of Services. Through the establishment of a network of European partners, the consolidation of scarce and scattered rare disease information and resources has addressed a great unmet need of the rare disease community A.
Detailed Description Activities 1. Through the establishment of a network of European partners and their exchange of rare disease information, the consolidation of scarce and scattered rare disease information and resources on the Orphanet database has addressed a great unmet need of the rare disease community. The information provided on the Orphanet database is comprised of the name, general description, prevalence rate in the community, synonyms, symptoms, causes, epidemiological data, preventive measures, standard treatments e.
This information has been made widely available on the European level through two products: Activities foreseen The foreseen activities were conducted over a period of 36 months from 1 April to 31 March The expected results, presented by year in Table 1, describe the expected increase in website users, development of the Encyclopaedia, development of the Directory of Services, and remaining project management tasks.
Achieved Activities a User Statistics As of the end of Marchand according to Google statistics, the number of Orphanet visitors per average weekday is 22, from over countries. The increase is three times much larger than expected.
Orphanet is now the most accessed website in the world in the field of rare diseases. We have produced more summaries in English than planned written by experts and written in-house and a bit less review articles than expected Translation of summaries has also progressed. The increase in the volume of data collected and published on the website since the beginning of the contract is as follows: April March Clinical laboratories 1, Specialised clinics 1, 2, Research projects 1, 4, Clinical trials Support groups 1, Professionals 4, 9, Total 8, 19, The total amount of data has, therefore, increased by 2.
Detailed statistics are available on the OrphanPlatform website, www. The database of services is updated yearly. During Year 3, we developed an online system allowing professionals to directly update their activity. Currently, they receive a copy of all the data which are linked to them once a year and can modify them if necessary.
In the two latter countries, the effective participation in Orphanet activities could not start as their respective governments had not yet signed the memorandum on public health necessary for funding. These meetings were organized outside this contract which did not provide financial support for them. Four-day-long training sessions were organized by the central team in Paris for each partner during the 3 year period of the contract. Manpower for the execution of activities 1.
Manpower in France Orphanet was run by a dedicated Inserm team in Paris. The production of the Encyclopaedia required 1, days of an editor. The database of diseases required days of information scientists. The collection of data on services in France required 1, days of an information scientist. The supervision of the data collection, training and quality control required days of a data manager. Manpower in Estonia The collection of data on services required 64 days of the coordinator, 34 days of a secretary and days of an information scientist.
Manpower in Cyprus The collection of data on services required days of the coordinator, days of an information scientist. Manpower in Portugal The collection of data on services required 73 days of the coordinator and days of an information scientist.
Manpower in Germany The collection of data on services required days of an information scientist.
Manpower in the Netherlands The collection of data on services required 5 days of the coordinator and days of an information scientist. Manpower in Denmark The collection of data on services required 9 days of the coordinator and days of an information scientist.
Manpower in Greece The collection of data on services required days of an information scientist. Manpower in Hungary The collection of data on services required days of the coordinator and days of an information scientist. Manpower in Spain The collection of data on services required days of the coordinator mddicala 1, days of an information scientist.
Manpower in Italy The coordination required 40 days of an MD. The Encyclopaedia in Italian required days of an editor. The collection of data on services required days of egnetica information scientist. Manpower in United- Kingdom The collection of data on services required days of an information scientist.
Manpower in Romania The collection of data on services required days of an information scientist. Distribution of Work 1.
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The team was in charge of coordinating network activities, all hardware and software aspects of the project, the database of rare diseases and the production of the Encyclopaedia. The hardware and software aspects of the project included the management of the Unix server over 20, connections per day and transactions per day to update the data and the development of new tools to collect and update information.
As we were not satisfied with the service in terms of security of the server, we established a partnership with the Informatics Department of Inserm and transferred the Orphanet server to the Inserm Central Informatics Facility in Villejuif, in February The service is now guaranteed 7 days per week, 24 hours per day.
The main change in the methodology that took place during Year 3 is the development of an online sytem to allow professionals to update their activity. Currently they receive a copy of all data linked to them once a year genteica can modify them if necessary.
This development facilitates the updating and genetcia collection of new data. The list was updated through a permanent survey of the medical and scientific literature. Moreover, the coordinating team is also responsible for collecting, validating and entering data on clinical trials, diagnostic laboratories, specialised consultations, research projects, support groups and additional sources of information in France.
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Partner Activities The establishment of a Directory of Services can only be achieved by consolidation of data collected at the MS level as the imrcea of the expert resources requires a very good knowledge of the national research and health care networks. Each country coordinator is a national expert — an essential element in establishing a scientific committee at the MS level.
All national coordinators are located in high profile institutions which can provide the adequate environment for the information scientists to work, in terms of documentation, secretarial facilities and access to the network. Each national partner is responsible for collecting, validating and entering data on clinical trials, diagnostic laboratories, specialised consultations, research projects, support groups and additional sources of information in their respective countries.
Each partner has the choice either to be provided with the computer system tools to access and update the database from its own premises mlrcea to send the data to the central team for data processing. Currently the countries which are fully responsible for their data entry include: This process is illustrated on figure 1.
Management boards The project is run by three committees: It meets once a year and decides on the quality charter, the evolution gentica the database, the budget, and the dissemination of information.
It is in genwtica of advising the executive board on all relevant matters and of validating the data before it is released. Members are nominated by country coordinators. The organisation of the work and formal meeting of this committee is decided at the national level. All work is done electronically with no formal meetings Annex 1. Achievement of objectives 1. Evaluation of results a User Statistics User statistics are available on the Orphanet website on a daily basis.
Mirdea the reputation of Orphanet was already well established at the beginning of this contract, the increase in the average number of users is significantly larger than expected. At the end of this contract, an average of more than 22, independent users visited the Orphanet website daily figure 2.
Orphanet is now the most accessed website in the world in its category. Figure 3 b Encyclopaedia As meedicala Marchthe Orphanet Encyclopaedia contained 2, summaries in English, 2, summaries in French, 1, summaries in Italian, summaries in Spanish, 1, summaries genteica German, summaries in Portuguese, review articles in French and review articles in English. Far more summaries and a bit fewer review articles have been produced than originally planned.
This was based on a decision to reallocate resources toward the production of summaries which are the key products that end users are seeking. The number of articles and summaries by year is illustrated on Figure 4. The data collection of services could not start in Lithuania or Bulgaria, as their respective mitcea had not yet signed a memorandum on public health necessary for funding.
This development provides an opportunity for the articles to be indexed by Medline and to have an official impact factor with a jedicala delay of two years increasing the visibility of the articles. The journal was launched in March