1. FP5 CF Thematic Network QLK3 - CT99 – 00241 FP5 CF PRONET RTD QLG1– CT-2001-01005 FP6 EUROGENTEST NoE FP6 512148 Coordinator JJ Cassiman FP5 and FP6 Projects

2. CELL BIOLOGY PHENOTYPE Patients Samples Tools Methods RESOURCESRESOURCES ECFS DIAGNOSTIC LABORATORIES ICFMA WHO ETHICAL - LEGAL THERAPY THE CF THEMATIC NETWORK INDUSTRY IPR SOCIAL GENETIC

3.  Research projects (J.J. Cassiman, P.F. Pignatti, M. Goossens, D. Schindelhauer, A. Edelman, P. Galvin)  Working group of the genetic diagnostic laboratories (E. Dequeker)  The Medical Profession and of the patient organizations (J. Dodge, G. Döring)  Resources (J. Lavinha, M. Amaral)  Legal and ethical group (H. Nys)  Legal (intellectual property) group (G. Van Overwalle)  Industrial partners (R. Kozlowski) CF network Project coordinator: Jean-Jacques Cassiman

4.  Newsletter Website http://www.cfnetwork.be  Leaflet of the CF network Pamphlet with information on the project  A manual for CF patients and their families English, French, German, Spanish, Italian, Czech, Slovak, Croatian, Latvian, Serbian, Russian and Ukrainian Activities CF network (1)

5.  Steering Committee Meeting Activities CF network (2)  Annual ad hoc meetings Industry CF associations WHO experrt meetings  Guidelines for genetic testing  Network meetings Eastern and Central European CF network International Symposium Annual meeting of CFTR expression working group (Lisbon)

6. CF-CHIP : P. Galvin Sensitive Proteomics : A. Edelmann PNA CHIPS : M. Goossens GENE THERAPY : D. Schindelhauer CF PRONET : JJ. Cassiman CRMGEN : D. Barton EMQN : R. Elles ESTO - STRATA OTHER EUROPEAN ACTIVITIES of THE CF-THN

7. Modulation through corrections of folding and trafficking P4 Modulation through Pharmacological agents P6 Modulation through interaction with known proteins P2 Rescue of CFTR activity or Processing Trp4,VRAC,CACC,CaveolinMPB derivatives Others Complementation in vitro dF508 mice Interacting Proteins P1, P5, P7 Genetic Factors Sibs and twins P3 New Proteins and Genes Linkage/association Proteomes Transcriptomes Y2H Proteomes Transcriptomes WP1WP3 WP2 WP4 WP5 WP6 WP7 WP8 CFTR Protein Network Understanding Disease Variability, Molecular Pathogenesis, Phenotypic variability in complex traits Diagnostics Therapeutics

8. EUROGENTEST Co-ordinator: Jean-Jacques Cassiman K.U. Leuven, Belgium www.eurogentest.org Network of Excellence 2005 - 2009

9. Quality issues in Europe Lack of harmonized and standardized EQA Lack of reference materials Limited number of accredited labs Insufficient counseling More than 1000 laboratories/centers in different settings More than 1000 rare diseases can be tested Lack of centralized and uniform information about services Limited networking Limited analytical and clinical validation of tests IPTS report 2003

10. 34 Participants form 17 countries,, including 7 SMEs Existing networks (EMQN, Crmgen,…..) and 2 participants from developing countries Interaction with the National Human Genetics Societies Numerous expert pannels 22 WPs

11. Management team Network of Excellence: “EUROGENTEST” Unit 5 Unit 2 Unit 1 Unit 4 Unit 3 Unit 6 Quality Management Information Data bases Public Health Clinical Genetics Ethical, Legal, Social Issues Research Emerging technologies Education/ Information NETWORK COORDINATION Steering Committee ADVISORY BOARD WP Coordination; IPR issues; Fellowships; Health Policy issues; Expert Laboratories network

12. Workpackages WP 1.1 Harmonize Quality Systems WP 1.2 Current status of Quality Assurance in EU WP 1.3 EQA for Molecular Genetic Testing WP 1.4 EQA for Cytogenetic Testing WP 1.5 EQA for Biochemical Testing WP 1.6 Reference Measurement Procedures and Reference Materials WP 1.7 Procedures for validation of methods and procedures UNIT 1 Quality Management

13. WP 2.1 Harmonize Information databases WP 2.2 Map Bioinformatics requirements WP 2.3 Review Bioinformatics tools UNIT 3 Clinical genetics and technology assessment WP 3.1 Quality of genetic counselling WP 3.2 Clinical validation of genetic testing Workpackages UNIT 2 Bioinformatics

14. WP 4.1 Guidelines for genetic testing WP 4.2 Legal rights of Patients/ users of genetic services UNIT 5 R & D WP 5.1 Validation of methods and technologies WP 5.2 Pilot beta test sites WP 5.3 IPR issues in genetic testing Workpackages UNIT 4 Ethical, Legal and Social Issues

15. WP 6.1 Information for the public WP 6.2 Information for health professionals WP 6.3 PR issues WP 6.4 EUROGENTEST website Workpackages UNIT 6 Eduction

16. Deliverables Guidelines and recommendations for quality assurance of genetic testing and counseling Availability of quality reviewed information (what, how, where) about genetic testing Training of laboratory, medical, non-medical personnel Structuring and harmonization of testing in Europe Networking and reference laboratories International collaboration (OECD, ACMG, IFHGS) Evaluation of impact of procedures on society (economic, social, legal)

17. SWOTSWOT Creation of expert groups, new contacts and collaborations, International forum, Heavy administrative aspects, lack of flexibility. Focus on applied research Creation of a unique international forum to tackle common problems, complementarity with excellent research groups, Unique technological platforms Disenchantement with the administrative and financial controls, lack of creative fundamental research