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Area of Activity |
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Title of Project EUROMUSCLENET
- Muscle diseases - prototype of rare and disabling disorders: |
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Organization Name: SPK (Schlosspark-Klinik KG) Address: Heubnerweg 2 D-14059 BERLIN Telephone / Fax: +49.30.32.64.16.02 / +49.30.32.64.16.00 Web site: E-mail: Contact person: Simone SPULER |
Partner Organisations - Gent
University Hospital (B) |
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Funds Total cost: 183.024,89 € Grant: 128.000,00 € |
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Start of Project - 01/12/2000 |
Duration of Project (months) 36 |
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Statement of the project's aims Establishment of a European information network on muscle diseases in all European languages 1. Via the World Wide Web on the Europa Server (first priority). Creation of a large network in which smaller existing networks in different countries or between research groups are integrated. 2. Via booklets available in all EU languages to be distributed through neurology departments, physicians in private practice and local health officials (1 booklet planned for this application period). Muscle diseases (synomyms: neuromuscular diseases, myopathies) encompass of a group of about 200 inherited or acquired disorders all of which have prevalences between 1:3000 to 1:100.000. The spectrum of diseases varies from fatal childhood muscular dystrophies to myopathies with very few symptoms and a normal life expectancy. The diagnosis needs highly specialized morphological, biochemical and molecular genetic studies that are available only in a few centers in Europe. An information network on neuromuscular disorders has an important Community dimension as it provides easily available comprehensive information in the field. Cross-border links to research centers and specialists are mandatory to optimize communication, scientific, diagnostic and finally therapeutic efforts in this rapidly advancing area of rare diseases. Because neuromuscular disorders are part of many different fields as neurology, pediatrics, orthopedics, gnetics, physical medicine, pulmonology, ophtalmology and rheumatology they should be appreciated as a separate project in Action I - despite their relatively small number among all possible rare diseases. Outside the EU, collaboration and cross-links are intended with the American Muscular Dystrophy Association and the WHO. |
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Area of Activity |
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Title of Project EDDNAL - European directory of dna laboratories |
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Organization Name: CENTRE
DE GENETIQUE HUMAINE - Address: Allée des Templiers, 41 B-6280 - LOVERVAL-GERPINNES Telephone / Fax: +32.71.47.30.47 / +32.71.47.15.20 Web site: E-mail: Contact person: Lionel Van Maldergem, MD |
Partner Organisations
- Institut für
Medizinische Chemie der Universität
Wien (A) |
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Funds Total cost: 128.816,83 € Grant: 85.000,00 € |
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Start of Project 01/12/2000 |
Duration of Project (months) 24 |
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Statement of the project's aims - to provide a service for professionals working in the field of molecular and clinical medicine by collecting the specifications and availability fo DNA tests for rare genetic diseases in the different accredited laboratories of the European Union. Access to this information is made through a website named European Directory of diagnostic DNA Laboratories (EDDNAL), - to raise the quality of molecular genetic testing through the promotion of laboratories enrolment in quality assessment schemes, - to answer directly specific requests from professionals (paediatricians, clinical geneticists, gynaecologists, and molecular biologists) on the availability of molecular genetic tests or other diagnostic tests for conditions which are not listed on the website, - to promote an exchange of information between the different diagnostic laboratories, amongst others by pooling their results, - to review the medical molecular genetics literature and pursue local contacts in order to establish whether new diagnostic tests for rare genetic diseases may be introduced into the clinical diagnostic process after approval by the respective national partner. |
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Outcomes of the project
Executive
summary
Final
report,June 2003
EDDNAL
European Directory of DNA Diagnostic Laboratories: http://www.eddnal.com
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(17 KB)
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Area of Activity |
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Title of Project ORPHANET
1:
A European database on rare diseases and orphan drugs |
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Organization Name: INSERM (Institut National de la Santé et de la Recherche Médicale) Address: 101 rue de Tolbiac F-75654 - PARIS Cedex 13 Telephone / Fax: - / +33.1.43.44.15.48 Web site:
Contact person: |
Partner Organisations - Center for Human Genetics - University of Leuven (B)
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Funds Total cost: 658.253,00 € Grant: 220.000,00 € |
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Start of Project 01/12/2000 |
Duration of Project (months) 12 |
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Statement of the project's aims ORPHANET is a relational database on rare diseases and orphan drugs which is bilingual French/English for the moment but will be available progressively in all European languages. It is designed to serve the Community at large. The entry headings on each disease include the disease name and synonyms, an abstract summarising what is known about the disease, the addresses of specialised clinics, clinical laboratories, on-going research projects, patients' organisations, orphan drugs used to treat the disease and other international web sites. For the moment, most of the resources are located in France, as the project started in this country in its pilot phase. The project is to extend the content of the database to information from all European countries, using the database structure and the interfaces already developed by ORPHANET-FRANCE. ORPHANET is accessible free of charge on Internet at the address: http://orphanet.infobiogen.fr since January 1998. It is currently accessed by more than eight thousand users per day from more than 60 countries and contains information over 950 diseases. It is funded by two French governmental agencies: Direction Générale de la Santé and INSERM. |
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Outcomes of the project
Executive
summary of the final report
Final
report, February 2002 |
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Area of Activity |
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Title of Project Information network for immunodeficiencies |
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Organization Name: INSTITUTE
OF MEDICAL TECHNOLOGY- Address: Kalevantie 4 FIN-33014 - TAMPERE Telephone / Fax: +358.3.215.6015 / +358.3.215.7545 Web site: E-mail: Contact person: Mauno VIHINEN |
Partner Organisations - Immunologische
Tagesklinik (A) |
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Funds Total cost: 164.917,00 € Grant: 105.000,00 € |
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Start of Project 14/12/2000 |
Duration of Project (months) 24 |
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Statement of the project's aims The aim of the project is to set up a European network to provide for interested parties information on primary immunodeficiencies, rare disorders that affect the human immune system. Altogether more than 80 immunodeficiencies are known. Due to being rare it has been difficult to obtain information on these disorders. It aims at providing knowledge in a user-friendly data service. The database will be distributed in Internet and contains data e.g. for the classification and diagnosis of immunodeficiencies, laboratories performing diagnoses, treatment, symptoms, ongoing research for these diseases, and other information sources. The data will be validated by experts and consulted with nurse and patient organisations and will be freely available. All the Member States are invloved as well as several non-member countries. |
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Outcomes of the project
Final
report, April 2003
Immuno Deficiency Resource (IDR) web site: http://bioinf.uta.fi/idr Publications: Jouni
VÄLIAHO, Marianne PUSA, Tuomo YLINEN, Mauno VIHINEN: IDR, The ImmuniDeficiency Resource. NucleicAcids
Research, 2002, Vol. 30, No. 1. Jouni
VÄLIAHO, Pentti RIIKONEN, Mauno VIHINEN: Novel
immunodeficiency data servers. Immunological
Reviews 2000, Vol. 178: 177-185. Jouni
VÄLIAHO, Crina SAMARGHITEAN, Hilkka PIIRILÄ,
Marianne PUSA, Mauno VIHINEN: Immunodeficiency
Information Services. Primary Immunodeficiency
Diseases (in press). Crina
SAMARGHITEAN, Jouni VÄLIAHO, Mauno VIHINEN:
Online Registry of Genetic and Clinical
Immunodeficiency Diagnostic Laboratories,
IDdiagnostics. Journal of Clinical Immunology
(submitted). |
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Title of Project TEAM 1 - Transfer of expertise on rare metabolic diseases in adults (Phase 1) |
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Organization Name: DEPARTMENT OF
INTERNAL MEDICINE Address: Heidelberglaan 100 NL-3584 CX - UTRECHT Telephone / Fax: +31.30.250.63.12 / +31.30.251.83.28 Web site: E-mail: Contact person: Harold Wessel DE VALK |
Partner Organisations - Universidad
Autonóma de Madrid (E)
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Funds Total cost: 191.116,34 € Grant: 120.000,00 € |
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Start of Project 14/12/2000 |
Duration of Project (months) 24 |
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Statement of the project's aims To improve and disseminate expert knowledge on an emerging group of patients: adult patients with rare metabolic diseases requiring treatment in adulthood. This improvement is achieved by designing and organising a series of 5 short intensive work-training meetings based on review and summary of existing knowledge in the field. In these training meetings, attention will be paid to diagnosis, manifestations, chronic complications, prognosis, treatment, procreation and psycho-social issues in adult patients with these diseases. These training meetings will be organised for European professionals treating adult patients in this field. The results of these meetings will be made available through different means. The training and publications will ensure adequate and equal distribution of expertise to all professionals in Europe. Patient care and counselling will be improved by such an approach. |
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Outcomes of the project
Executive
summary of the final report
Final report,
December 2003 Annexes of the final report:
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Area of Activity
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Title of Project Orphan medicinal products to the service of patients affected by rare disorders |
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Organization Name: EURORDIS (EUROPEAN ORGANISATION FOR RARE DISORDERS) Address: Hôpital Broussais, Telephone / Fax: + 33.1.56.53.52.10 / + 33.1.56.53.52.15 Web site: E-mail: Contact person: Claire Marichal Yann LE CAM |
Partner Organisations - Rare Disorders Belgium (B)
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Funds Total cost: 211.082,00 € Grant: 130.000,00 € |
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Start of Project 20/10/2000 |
Duration of Project (months) 14 |
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Statement of the project's aims This project is the first part of a long-term project covering 2000-2003 period "creating and animating a European transnational network on rare diseases around key themes" The project is developed around the theme: Orphan medicinal products to the service of patients affected by rare disorders - period 2000/2001 The first level of objectives is: - to strengthen existing
national alliances; - to link patients groups
across pathology and borders; |
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Outcomes of the project
Executive
summary of the final report
Final
report, March 2002
Annexes of the final report:
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Area of Activity |
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Title of Project EUROCAT 1: Surveillance of congenital anomalies in europe (Phase 1) |
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Organization Name: UNIVERSITY OF ULSTER Address: Cromore Road - BT52
1SA Corelaine Co. Contact persons: Barbara NORTON Helen DOLK |
Partner Organisations In the EU countries: - Karl-Franzens University (A) |
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Funds Total cost: 385.561,07 € Grant: 260.000,00 € |
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Start of Project 01/11/2000 |
Duration of Project (months) 18 |
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Statement of the project's aims EUROCAT is a European network of 34 registries for the epidemiologic surveillance of congenital anomalies. Currently, more than 900 000 births per year in Europe are surveyed, and the Central Registry holds a standardised database on more than 160 000 cases of congenital anomaly among livebirths, stillbirths and terminations of pregnancy since the start of EUROCAT in 1980. The specific objectives of this funding proposal are: - to develop within the EUROCAT an Information and Advisory Service for the management of Clusters of congenital anomalies and of Environmental exposure incidents (IASCE) ; (action 4) - to strengthen the capability of EUROCAT to function as an early warning system for new teratogenic exposures; (action 4) - to consolidate EUROCAT as the focus of epidemiological information on congenital anomalies in Europe, in particular through effective use of the internet; (action 1) - to exploit the power of transnational co-operation in data collection and exchange of expertise to address issues of concern regarding birth defect prevention and service delivery; (action 3) - to collaborate in the training of health professionals regarding congenital anomaly epidemiology, and the investigation of environmental exposures. (action 2) |
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Outcomes of the project
Final
report (October 2002) Appendixes of the final report:
Reports:
Other publications and reports:
Eurocat - publications and data
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Area of Activity
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Title of Project NEPHIRD 1 - Network of Public Health Institutions on Rare Diseases (Phase 1) |
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Organization Name: Centro
Nazionale Malattie Rare Address: Viale Regina Elena, 299 IT - 00161 ROME Telephone / Fax: + 39.06.49.90.26.43 / +39.06.44.86.94.40 Web site: E-mail: Contact person: Domenica TARUSCIO |
Partner Organisations
- Ministère Fédéral des Affaires sociales, de la Santé
Publique et de l'Environnement (B) |
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Funds Total cost: 102.348,38 € Grant: 60.000,00 € |
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Start of Project 01/12/2000 |
Duration of Project (months) 26 |
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Statement of the project's aims The programme of NEPHIRD emphasises the participation of governmental and public institutes, in order to optimise the impact on public health policies toward Rare Disease (RD). a) The feasibility study will concentrate on the analysis and design phase of the network for data collection, ending up with recommendations and/or guidelines for data base standards, sources, information content and presentation. The ongoing national activities on RD in the participating Countries will be identified and experiences regarding health policies toward RD will be shared. It is considered prioritary the evaluation of such problems as: whether and how registries or other types of surveys or information are more suitable to gather epidemiological data on selected RD; what size of population should be covered by a registry or information system and how can population-based data be achieved; is it necessary to cover the whole country or is it better to concentrate resources on selected areas; and, finally, what institutional frameworks and policy actions should be recommended (Action 1). b) The feasibility study will also include the analysis and design phases of the development of a NEPHIRD website. In the future steps of the Project this will be essential to disseminate information as well as to promote transnational collaboration within the project's network among health professionals, patient groups and non-profit associations. The NEPHIRD website will be designed with facilities for public access and easy and interactive information exchange, in order to actively involve patient groups and non-profit associations. c) Future phases of the project: the feasibility study could be the basis for the collection of valid and comprehensive epidemiological information on selected RD at the EU level. Moreover, the implemented network will provide knowledge on existing services and it will be an important basis to target public health actions on RD. |
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Outcomes of the project
Executive
summary of the final report
Final
report,June 2003
Publication: TARUSCIO
D., SEYOUM Ido M., Daina E. A. SCHIEPPATI:
Tackling the problem of rare diseases in Public
Health: the Italian approach. Comm. Genetics,
2003, in press. |
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