1. Craniofacial anomalies Julian Little Canada Research Chair in Human Genome Epidemiology Department of Epidemiology & Community Medicine University of Ottawa HuGENet NETWORK OF NETWORKS WORKSHOP October 2005

2. Origins WHO Human Genetics Programme, 2000 Financial support from NIDCR (US) Five-year project designed to take forward international strategy on craniofacial anomalies

3. Objectives of WHO project to develop an international network for consensus building, planning and development for international collaborative biomedical, epidemiological and behavioural studies in the core areas of craniofacial anomalies research to create a directory of research resources in craniofacial anomalies. to create the International Database on Craniofacial Anomalies (CFA)

4. Core areas genetic basis of CFA gene-environment interactions involved in CFA prevention of CFA optimal treatment of CFA

5. Consensus meetings Nov 2000 – concurrent workshops on (1) genetic basis (2) g-e interaction (3) treatment May 2001 – prevention Dec 2001 – global registry

6. 20032002

8. Consensus meetings Nov 2000 – concurrent workshops on (1) genetic basis (2) g-e interaction (3) treatment May 2001 – prevention Dec 2001 – global registry Dec 2004 – progress and future strategies ________

9. Reported investigations on gene-environment interaction in aetiology of oral clefts

10. Gene-environment interaction and oral clefts: data and sample collections

11. Identifying teams List developed from WHO reports and literature searches Asked those who attended WHO meetings (1) about concept (2) to review list and extend if possible Contact additional teams identified

12. Teams 1.with established data and sample collections 2.with ongoing data and sample collections 3.planning to establish data and sample collections

13. WHO regionEstablishedOngoingPlanned Multicountry in >1 region 2 (trios and other familial) 3 (trios and other familial) - AFR--1 AMR8 (cc & trio)1 multicountry; 1 multistate; 1 2 EMR--1 EUR1 multicountry (trio); 9 (cc & trio) 1 cohort SEAR4 (cc & trio)-3 Numbers of teams

14. WHO region EstablishedOngoingPlanned >1? + > 2000 trios3 (trios and other familial) - AFR--(1) AMR1343 cc (5); 324 trios (3); >7000 samples (1) 1 multicountry; 1 multistate 2100cc but bio samp from 600 only; (2) EMR--(1) EURmulticountry 1169 trios; 1227 cc (9); 651 trios (4) 1 cohort SEAR259 cc (3) & 213 trios (2)-(3) N of cases from cc studies; trios; samples; (studies)………

15. Co-ordination Ottawa Dundee (Peter Mossey) Iowa (Jeff Murray)

16. Funding

17. Other issues Different designs Samples –Governance –Further analyses possible? Outside country? Elsewhere within country? Only in own centre?