FP5 CF Thematic Network QLK3 - CT99 – 00241 FP5 CF PRONET RTD QLG1– CT-2001-01005

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

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

3. CF network Project coordinator: Jean-Jacques Cassiman • 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)

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

5. Activities CF network (2) • Steering Committee Meeting • Annualad hoc meetingsIndustry 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. OTHER EUROPEAN ACTIVITIES of THE CF-THN 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

7. CFTR Protein Network Diagnostics Therapeutics Understanding Disease Variability, Molecular Pathogenesis, Phenotypic variability in complex traits Rescue of CFTR activity or Processing Modulation through interaction with known proteins P2 Modulation through Pharmacological agents P6 Modulation through corrections of folding and trafficking P4 WP2 WP1 WP3 Trp4,VRAC,CACC,Caveolin MPB derivatives Others Complementation in vitro dF508 mice New Proteins and Genes Interacting Proteins P1, P5, P7 Genetic Factors Sibs and twins P3 WP7 WP8 WP4 WP5 WP6 Linkage/association Proteomes Transcriptomes Y2H Proteomes Transcriptomes

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

9. 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 Quality issues in Europe Lack of harmonized and standardized EQA Lack of reference materials Limited number of accredited labs Limited analytical and clinical validation of tests Insufficient counseling 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. NETWORK COORDINATION Steering Committee ADVISORY BOARD Network of Excellence: “EUROGENTEST” Unit 4 Unit 6 Unit 1 Unit 2 Unit 3 Unit 5 Management team Research Emerging technologies Ethical, Legal, Social Issues Public Health Clinical Genetics Information Data bases Education/ Information Quality Management WP Coordination; IPR issues; Fellowships; Health Policy issues; Expert Laboratories network

12. Workpackages UNIT 1 Quality Management 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

13. Workpackages UNIT 2 Bioinformatics 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

14. Workpackages UNIT 4 Ethical, Legal and Social Issues 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

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

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. S W O T 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