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Projects funded in 2000: description and outcomes

Area of Activity
European information network on rare diseases

Title of Project

EUROMUSCLENET - Muscle diseases - prototype of rare and disabling disorders:
Creation of a European information network

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:

http://www.charite.de

E-mail:

Contact person:

Simone SPULER
Head of Neuromuscular Clinic
Department of Neurology
Charité University Hospital
Campus Virchow Klinikum
AugustenburgerPlatz 1
D-13353 Berlin
Tel: +49.30.450.560.193
Fax: +49.30.450.560.982
E-mail: simone.spuler@charite.de
Web site: www.euromusclenet.org

Partner Organisations

- Gent University Hospital (B)
- University of Antwerp (B)
- Universitätsklinikum Essen (D)
- Robert-Koch-Institute (D)
- ÖGD-Konzeption von Veranstaltungen zu gesundheitlichen Themen (D)
- Copenhagen university Hospital, Rigshospitalet (DK)
- Hospital do Meixoeiro (E)
- Vasa Central Hospital (FIN)
- Istituto Ortopedico Rizzoli (I)
- University Hospital Nijmegen (NL)
- University of Amsterdam (NL)
- European Neuromuscular Centre (NL)
- Imperial College School of Medicine (UK)
- University of Newcastle upon Tyne (UK)

Funds

Total cost: 183.024,89

Grant: 128.000,00

Start of Project

- 01/12/2000

Duration of Project (months)

36

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
European information network on rare diseases

Title of Project

EDDNAL - European directory of dna laboratories

Organization

Name:

CENTRE DE GENETIQUE HUMAINE -
IPG (INSTITUT DE PATHOLOGIE ET DE GENETIQUE)

Address:

Allée des Templiers, 41

B-6280 - LOVERVAL-GERPINNES

Telephone / Fax:

+32.71.47.30.47 / +32.71.47.15.20

Web site:

http://www.eddnal.com

E-mail:

eddnal@skypro.be

Contact person:

Lionel Van Maldergem, MD
Tel: +32.71.44.71.83

Partner Organisations

- Institut für Medizinische Chemie der Universität Wien (A)
- Centre Hospitalier Universitaire du Sart Tilman (B)
- Julius Maximilians Universität Würzburg (D)
- Department of Clinical Genetics – Rigshospitalet (DK)
- Hospital Duran I Reynals (E)
- Aghia St Sophia's Children's Hospital (EL)
- Groupe Hospitalier Cochin (F)
- Helsinki University Hospital (FIN)
- Università degli Studi di Roma Tor Vergata (I)
- Our Lady's Hospital for Sick Children (IRL)
- Stichting Klinische Genetica Zuid-Oost Nederland (NL)
- Instituto de Genética Médica Jacinto de Magalhães (P)
- Karolinska Hospital (S)
- St Mary's Hospital (UK)
- Centre Hospitalier Universitaire Vaudois (CH)
- Haukeland Hospital (N)

Funds

Total cost: 128.816,83

Grant: 85.000,00

Start of Project

01/12/2000

Duration of Project (months)

24

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.

Outcomes of the project

Executive summary pdf (17 KB)

Final report,June 2003pdf (51 KB)

EDDNAL European Directory of DNA Diagnostic Laboratories: http://www.eddnal.com



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Area of Activity
European information network on rare diseases

Title of Project

ORPHANET 1: A European database on rare diseases and orphan drugs
(Phase 1)

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:

http://www.inserm.fr/

Contact person:

Ségolène AYMÉ
Hôpital Broussais
Inserm SC11
102, rue Didot
F-75014 PARIS
Tel: + 33 (0) 1 56 53 81 37 or 39
Fax: + 33 (0) 1 56 53 81 38
E-mail: ayme@orpha.net
Web site: http://www.orpha.net

Partner Organisations

- Center for Human Genetics - University of Leuven (B)
- Institut für Humangenetik (D)
- Università degli Studi di Roma «La Sapienza» (I)
- Université de Genève (CH)

Funds

Total cost: 658.253,00

Grant: 220.000,00

Start of Project

01/12/2000

Duration of Project (months)

12

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.

Outcomes of the project

Executive summary of the final reportpdf (20 KB)

Final report, February 2002pdf(160 KB)



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Area of Activity
European information network on rare diseases

Title of Project

Information network for immunodeficiencies

Organization

Name:

INSTITUTE OF MEDICAL TECHNOLOGY-
UNIVERSITY OF TAMPERE

Address:

Kalevantie 4

FIN-33014 - TAMPERE

Telephone / Fax:

+358.3.215.6015 / +358.3.215.7545

Web site:

E-mail:

Contact person:

Mauno VIHINEN
Tel: +358.3.215.7735
Fax: +358.3.215.7710
e-mail: mauno.vihinen@uta.fi
Web site: http://www.uta.fi/imt/bioinfo

Partner Organisations

- Immunologische Tagesklinik (A)
- ULB - Hôpital Erasme (B)
- Universität Ulm – Section Molecular Biology (D)
- Paediatric Clinic II 1046 – Rigshospitalet (DK)
- CSI Universitaria - Hospital Vall d'Hebron (E)
- « Aghia Sophia » Children's Hospital (EL)
- Hôpital Necker – Enfants Malades (F)
- Clinica Pediatrica – University of Brescia (I)
- St James's Hospital (IRL)
- Pediatric Clinic (L)
- CLB (NL)
- Hospital Santo António (P)
- Huddinge Hospital (S)
- Karolinska Institutet – Huddinge Hospital (S)
- Oxford Radcliffe Hospital (UK)

Funds

Total cost: 164.917,00

Grant: 105.000,00

Start of Project

14/12/2000

Duration of Project (months)

24

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.

Outcomes of the project

Final report, April 2003 pdf (155 KB)

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.
Contact the author

Jouni VÄLIAHO, Pentti RIIKONEN, Mauno VIHINEN: Novel immunodeficiency data servers. Immunological Reviews 2000, Vol. 178: 177-185.
Contact the author

Jouni VÄLIAHO, Crina SAMARGHITEAN, Hilkka PIIRILÄ, Marianne PUSA, Mauno VIHINEN: Immunodeficiency Information Services. Primary Immunodeficiency Diseases (in press).
Contact the author

Crina SAMARGHITEAN, Jouni VÄLIAHO, Mauno VIHINEN: Online Registry of Genetic and Clinical Immunodeficiency Diagnostic Laboratories, IDdiagnostics. Journal of Clinical Immunology (submitted).
Contact the author



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Area of Activity
Training on rare diseases

Title of Project

TEAM 1 - Transfer of expertise on rare metabolic diseases in adults (Phase 1)

Organization

Name:

DEPARTMENT OF INTERNAL MEDICINE
UMC (UNIVERSITY MEDICAL CENTER) UTRECHT

Address:

Heidelberglaan 100

NL-3584 CX - UTRECHT

Telephone / Fax:

+31.30.250.63.12 / +31.30.251.83.28

Web site:

www.umcutrecht.nl

E-mail:

Contact person:

Harold Wessel DE VALK
Project leader
Tel / Fax: +31.30.250.43.98
E-mail: H.W.deValk@azu.nl
Web site: http://www.umcutrecht.nl/afdeling/index.asp?dep=9

Partner Organisations

- Universidad Autonóma de Madrid (E)
- Clinique de Génétique Médicale – Hôpital des Enfants Malades (F)
- Università degli Studi di Padova (I)
- Faculdade de Farmácia – Universidade de Lisboa (P)
- Institute of Child Health (UK)

Funds

Total cost: 191.116,34

Grant: 120.000,00

Start of Project

14/12/2000

Duration of Project (months)

24

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.

Outcomes of the project

Executive summary of the final reportpdf (94 KB)

Final report, December 2003pdf (405 KB)

Annexes of the final report:

Annex 1:Overviewpdf (103 KB)
Annex 2:The TEAM-studypdf (309 KB)
Annex 3:Zwangerschap en stofwisselingsziektenpdf (181 KB)
Annex 4:Fenylketonurie : De vele gezichten van een genetische aandoeningpdf (424 KB)
Annex 5:Metabolismepdf (48 KB)
Annex 6:Zeldzame erfelijke stofwisselings - stoornissen: een trainingsprogrammapdf (105 KB)
Annex 7:Results of an international surveypdf (213 KB)
Annex 8:ALKAPTONURIA : Pathophysiology ; Signs and symptoms ; Old treatment ; Prognosis ; New treatment?pdf (719 KB)



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Area of Activity
European information network on rare diseases
Transnational collaboration on rare diseases

Title of Project

EAGS - Creating a European Alliance of patient and parent groups forGenetic Services and innovation in medicine

Organization

Name:

GENETIC INTEREST GROUP

Address:

Unit 4D, Leroy House, 436 Essex Road

UK-N1 3QP - LONDON

Telephone / Fax:

+44 207 704 3141 / +44 207 359 1447

Web site:

www.gig.org.uk

E-mail:

mail@gig.org.uk

Contact person:

Kent ALASTAIR
Director
Genetic Interest Group

Partner Organisations

- European Federation of Hereditary Ataxias (B)
- Fédération Des Maladies Orphelines (F)
- Vereniging Samenwerkende Ouder - en Patientenorganisaties (NL)

Funds

Total cost: 165.615,00

Grant: 110.000,00

Start of Project

01/12/2000

Duration of Project (months)

24

Statement of the project's aims

This project aims to build a network of patient umbrella groups for families in the Member States affected by rare disorders such that they will be better able to identify and articulate their needs and to generate improved services through shared experiences and pooled knowledge. Because of the large number of rare disorders caused by genetic mutations and their individual rarity, this project can only be effectively accomplished by transnational collaboration within the EU and the CEEC countries, as individual Member States do not in themselves have a sufficient population to sustain this on their own.



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Area of Activity
Transnational collaboration on rare diseases

Title of Project

Orphan medicinal products to the service of patients affected by rare disorders
(PARD 1)

Organization

Name:

EURORDIS (EUROPEAN ORGANISATION FOR RARE DISORDERS)

Address:

Hôpital Broussais,
102, rue Didot,
F-75014 - PARIS

Telephone / Fax:

+ 33.1.56.53.52.10 / + 33.1.56.53.52.15

Web site:

www.eurordis.org

E-mail:

eurordis@eurordis.org

Contact person:

Claire Marichal
Project coordinator
Tel: + 33.1.56.53.52.11
e-mail: claire.marichal@eurordis.org

Yann LE CAM
Chief executive officer
Tel: +33.1.56.53.52.16
e-mail: yann.lecam@eurordis.org

Partner Organisations

- Rare Disorders Belgium (B)
- Bundesarbeitsgemeinschaft Hilfe für Behinderte (BAGH) (D)
- Kontaktudvalget for Mindre Sygdomsog Handicapforeningen KMS (Danish Association for Rare Disorders) (DK)
- Alliance Maladies Rares (F)
- Federazione Italiana Malattie Rare (UNIAMO) (I)
- Working Group on Rare Disorders (NL)
- ANFQ (P)
- Federación Española de Enfermedades Raras (FEDER) (E)
- Sällsynta Diagnoser (Swedish Association of Rare Disorders) (S)
- Rare Disorders Alliance (UK)

Funds

Total cost: 211.082,00

Grant: 130.000,00

Start of Project

20/10/2000

Duration of Project (months)

14

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 strengthen collaboration at Community level among associations on rare disorders;
- to develop new national alliances in European countries, around the theme;
- to develop partnerships among all alliances.

The second level of objectives is:

- to link patients groups across pathology and borders;
- to give patients and families a voice at national and European levels;
- to share best practice and knowledge;
- to create synergies in Europe around the theme: orphan medicinal products;
- to generate concrete actions in the field both at national and European levels;
- to report evaluation needs;
- to produce recommendations at national and European levels;
- to issue European guidelines on "access to orphan medicinal products for rare disorders in Europe".

Outcomes of the project

Executive summary of the final report pdf (234 KB)

Final report, March 2002 pdf (234 KB)

Annexes of the final report:

Annex 1:SWOT (Strength, Weakness, Opportunities and Threats) analysis sample given to coordinators to prepare the analysis of their alliance pdf (234 KB)
Annex 2:Methodology to organise the 2-day national workshops pdf (90 KB)
Annex 3:Timetable of Phase II of the project pdf (19 KB)
Annex 4:PARD 1 presentation pdf (102 KB)
Annex 5:Proposed agenda to organise the workshops, created at the 1st Steering Committee Meeting pdf (20 KB)
Annex 6:Guidelines given to National Alliances regarding questions to be discussed during the workshops pdf (23 KB)
Annex 7:Modified report guidelines, revised on 12 th February 2001 and congratulation to coordinators pdf (40 KB)
Annex 8:Intermediate report sent to the European Commission in June 2001 on Phase I and II and the preparation of Phase III of the project pdf (54 KB)
Annex 9:Synthesis of the recommendations given by the National Alliances (presentation)pdf (114 KB)
Annex 10:Conclusion of the European Workshop by Terkel Andersen (project leader) pdf (73 KB)
Annex 11:Timetable of Phase IV of the project (2nd semester 2001) pdf (19 KB)
Annex 12:Guidelines sent by Eurordis to organise the 2nd national workshops pdf (40 KB)
Annex 13:Presentation to COMP and EMEA press release pdf (210 KB)



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Area of Activity
Monitoring, surveillance, early warning for clusters of rare diseases

Title of Project

EUROCAT 1: Surveillance of congenital anomalies in europe (Phase 1)

Organization

Name:

UNIVERSITY OF ULSTER

Address:

Cromore Road - BT52 1SA Corelaine Co.
UK - LONDONDERRY(Nothern Ireland)

Contact persons:

Barbara NORTON
(Eurocat Administrator, Eurocat Central Registry)
Room 15E12
Faculty of Life and Health Sciences
University of Ulster at Jordanstown
Shore Rd, NEWTONABBEY
UK-Co Antrim BT37 OQB (Nothern Ireland)

Tel: 0044/(0)28 90366639
Fax: 0044/(0)28 90368341
e-mail: eurocat@ulst.ac.uk
Web site: www.eurocat.ulster.ac.uk

Helen DOLK
(Project leader)
Room 15E12
Faculty of Life and Health Sciences
University of Ulster at Jordanstown
Shore Rd, NEWTONABBEY
UK - Co Antrim BT37 OQB (Nothern Ireland)

Tel: 0044/(0)28 90 368540 / 366639
Fax: 0044/(0)28 90 368341
E-mail: H.Dolk@ulster.ac.uk
Web site: www.eurocat.ulster.ac.uk

Partner Organisations

In the EU countries:

- Karl-Franzens University (A)
- Universitatsklinikum Graz (A)
- Institut de Morphologie Pathologique (B)
- Provinciaal Instituut voor Hygiene (B)
- Centre of Technology Assessment Baden-Wurttemberg (D)
- Med Fak der-Otto-von-Guericke-Universität (D)
- Universitätskinderklinik Mainz (D)
- University of Southern Denmark (DK)
- Azienda Ospedaliera G.Rummo (I)
- CNR Institute of Clinical Physiolgy (I)
- Genetica Medica (I)
- Istituto di Genetica Medica (I)
- Istituto Italiano di Medicina Sociale (I)
- Registro ISMAC (I)
- Universita' degli studi di Firenze (I)
- Universita' Degli Studi di Padova (I)
- World Health Organisation (I)
- Dr Steevens Hospital (IRL)
- Trinity College (IRL)
- The Health Research Board (IRL)
- University College Hospital Gallway (IRL)
- Consejeria de Sanidad (E)
- Corporació Sanitària Parc Tauli (E)
- Hospital de Cruces (E)
- Municipal Institute of Health (E)
- Universitad Complutense (E)
- INSERM (F)
- CEMC (F)
- Institut Européen des Génomutations (F)
- Hôpital de Hautepierre (F)
- Centre of Welfare & Health (FIN)
- GGD Rotterdam (NL)
- University of Groningen (NL)
- Public Health Service (NL)
- Hospital de Egas Moniz (P)
- London School of Hygiene and Tropical Medicine (UK)
- Northwick Park Hospital (UK)
- Office for National Statistics (UK)
- Public Health Directorate (UK)
- Singleton Hospital (UK)
- University College London (UK)
- University of Aberdeen (UK)
- University of Dundee (UK)
- University of Liverpool (UK)
- University of Ulster (UK)
- Yorkhill Hospital (UK)

Non-EU Countries:

- Children's Hospital Zagreb (HR)
- CHUV (CH)
- Higher Medical School (BG)
- Malta Congenital Anomalies Registry (MT)
- University of Bergen (NO)

Funds

Total cost: 385.561,07

Grant: 260.000,00

Start of Project

01/11/2000

Duration of Project (months)

18

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)

Outcomes of the project

Final report (October 2002)pdf(78 KB)

Appendixes of the final report:

Appendix 1pdf(57 KB): EUROCAT Partner List and Contact Details
Appendix 2pdf(14 KB): Partner Roles: List of Registry Leader and Membership of Working Groups, Committees and Project Management Committee
Appendix 3pdf(96 KB): EUROCAT Database in April 2002: Number of Individual Case Records per Year per Registry, 1980-2000
Appendix 4pdf(17 KB): Programme of the 16th EUROCAT Registry Leaders' Meeting, Catania, Sicily, 1-4 June 2001
Appendix 5pdf(15 KB): Programme of the Sixth European Symposium on the Prevention of Congenital Anomalies, Catania, Sicily, 2 June 2001
Appendix 6pdf(10 KB): Registry Leaders' Meeting Attendance List
Appendix 7pdf(346 KB): Report: Surveillance of Congenital Anomalies in Europe, 1980-1999

Reports:

Other publications and reports: Eurocat - publications and data



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Area of Activity
Monitoring, surveillance, early warning for clusters of rare diseases

Title of Project

NEPHIRD 1 - Network of Public Health Institutions on Rare Diseases (Phase 1)

Organization

Name:

Centro Nazionale Malattie Rare
Istituto Superiore di Sanita

Address:

Viale Regina Elena, 299

IT - 00161 ROME

Telephone / Fax:

+ 39.06.49.90.26.43 / +39.06.44.86.94.40

Web site:

http://www.cnmr.iss.it

E-mail:

diriss@iss.it

Contact person:

Domenica TARUSCIO
(Resp. National Center Rare Diseases)
Tel: +39.06.49.90.28.05
+39.06.49.90.40.16
Fax: +39.06.49.90.43.70
e-mail: taruscio@iss.it
Web site: Nephird project

Partner Organisations

- Ministère Fédéral des Affaires sociales, de la Santé Publique et de l'Environnement (B)
- Childrens University Hospital Zagreb Klaiceva (HR)
- Centre for Rare Diseases and Disabilities (DK)
- Service de Génétique Médicale (F)
- Institute of Human Genetics (D)
- Mainz Congenital Birth Defect Monitoring System
- University College Dublin (IRL)
- Istituto Superiore de Sanità (I)
- Università di Ferrara (I)
- Istituto di Fisiologia Clinica (I)
- Human Genetic Centre (LT)
- Epimediologist Research Center of Luxembourg – CRESIS-CRP (L)
- Department of Health Information (MT)
- VSOP Centre of Rare Diseases (NL)
- University of Bergen (NO)
- Hospital de Dona Estefania (P)
- Istituto de Salud Carlos III (E)
- National Rare Diseases Centre (UK)
- University of Plymouth (UK)
- University of Ulster at Jordanstown (UK)

Funds

Total cost: 102.348,38

Grant: 60.000,00

Start of Project

01/12/2000

Duration of Project (months)

26

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).
The first year will be devoted to a feasibility study on the development and implementation of a network on Rare Diseases (RD) among public health institutions of participating Countries.

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.
Moreover, the outcomes of the feasibility study will contribute to identify needs and priorities for the future organization of interdisciplinary courses at EU level on public health aspects of RD.

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.
Further contributions on the surveillance and management of RD will be welcome and efforts will be made in order to integrate them in the future developments of the project.

Outcomes of the project

Executive summary of the final report pdf(18 KB)

Final report,June 2003 pdf(223 KB)

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.
Contact the author



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