1. KAROLINSKA INSTITUTET International Biobank and Cohort Studies: Developing a Harmonious Approach February 7-8, 2005, Atlanta; GA Karolinska Institutet GenomEUtwin Karolinska Institutet Biobank LifeGene Jan-Eric Litton Karolinska Institutet, Stockholm Sweden

2. KAROLINSKA INSTITUTET Karolinska Institutet Stockholm, Sweden

3. KAROLINSKA INSTITUTET Stockholm … an archipelago with 30.000 ilands

4. KAROLINSKA INSTITUTET A letter from King Karl XIII to the Collegium Medicum in 1810 authorized the immediate establishment of a ”college for the corps of field surgeons”. War and cholera led to the royal decree...

5. KAROLINSKA INSTITUTET From a school for army surgeons to a medical university 1810 The Royal Carolinska Medico-Surgical Institute was founded ”for the creation of skilled Army Surgeons”. 1811 Jöns Jacob Berzelius became one of KI’s first professors and laid the foundation for the Institute’s natural-scientific orientation. 1895 Alfred Nobel appointed Karolinska Institutet to decide who should be awarded the Nobel Prize in Physiology or Medicine. 1993 A comprehensive reorganization of KI began: 150 departments became 27.

6. KAROLINSKA INSTITUTET GenomEUtwin The European Consortium of Twin Registries for Analyses of Complex Traits; www.genomeutwin.org Aims to capitalize special advantages of Europe in population genetics The goal is to identify critical genetic and life-style risk factors for common diseases using European strengths in genetics, epidemiology and biocomputing

7. KAROLINSKA INSTITUTET GenomEUtwin Funded by EU as one of three Centers of Excellence in Genomics in 2002, PI: Leena Peltonen Twin cohort from Denmark, Finland, Italy Netherlands, Norway and Sweden (England and Australia) over 600 000 twin pairs total, 65% dizygotic MORGAM cohort from 9 European countries, total of > 144 000 participants

8. KAROLINSKA INSTITUTET GenomEUtwin Twin Cohorts have been used for decades to estimate to role of genetics in the background of common diseases Gathering phenotype info for decades In Sweden Civic # 1947 Swedish Cancer Registry 1958 The Cause of Dead Registry, started 1756, modern classification 1961

9. KAROLINSKA INSTITUTET TwinNET Ten first months a database structure established Database completion A common, secure database established in Europe for all relevant scientific information in GenomEUtwin

10. KAROLINSKA INSTITUTET TwinNET EUid number (EUIDNUM) 752000021210 –The EUidnumber consists of four parts:  Country code 3 digits – ISO 3166  Randomized number 7 digits  Identification number 1 digit Check sum 1 digit

11. KAROLINSKA INSTITUTET TwinNET

12. KAROLINSKA INSTITUTET

13. KAROLINSKA INSTITUTET TwinNET

14. KAROLINSKA INSTITUTET Federated data approch Data stay untouched –Integrates heterogeneous local or remote data sources through wrappers Just need to know what data should be available to whom and how to access them It makes all data look like it is one virtual database hiding the data layer complexity ODBC – JDBC and more

15. KAROLINSKA INSTITUTET TwinNET  Relational wrappers list DB2 family Informix (Informix Client SDK) Oracle (SQLNet or Net8 client) MSQL Server (ODBC driver version 3.0 or later) Sybase (Sybase open client) Teradata (Teradata CLI) ODBC (ODBC driver version 3.x)  Non-relational wrappers list Lotus Extended search Excel Flatfile (CSV format) XML (1.0 specifications) OLE DB BLAST Documentum (Documentum client API) Entrez (version 1.0)

16. KAROLINSKA INSTITUTET TwinNET Genotypes Finnish Twin Registry Swedish Twin Registry Finnish Twin Registry Genotypes Swedish Twin Registry Federated database HUB GenomEUtwin centres databases GenomEUtwin user

17. KAROLINSKA INSTITUTET TwinNET December 2004 GT FGC Helsinki Mol Med Rudbeck lab Uppsala Genotypes SMdb Database federation – Information Integrator Phenotypes Genotype submission database Helsinki SSH Excel sheetSSH WEB IBM xSeries 325 2xOpteron, 4GB, SAN DK SQL Stockholm NOFISE

18. KAROLINSKA INSTITUTET Karolinska Institutet Biobank Karolinska Institute Biobank constitutes a national, non-commercial resource for collection, handling and storage of human biological material aiming at promoting scientific excellence within molecular and genetic research. Biobank Informatic is a central part of the Karolinska Institutets Biobank

19. KAROLINSKA INSTITUTET Biobank Information Management System - vision A system that will enable a researcher to search and navigate the enormous amounts of information available for samples and their donors in various data sources.

20. KAROLINSKA INSTITUTET Biobank Information Management System

21. KAROLINSKA INSTITUTET Biobank Information Management System

22. KAROLINSKA INSTITUTET Biobank Information Management System DDQB- Absract Data Model Database F FF F F F F C C C User View Access Methods Abstract Query Data Abstraction Model (DAM)

23. KAROLINSKA INSTITUTET Biobank Information Management System

24. KAROLINSKA INSTITUTET LifeGene A Swedish Population-based Project on Lifestyle, Genomics and Health

25. KAROLINSKA INSTITUTET LifeGene Study of aetiology of diseases with high health care and economic impact Prospective highly motivated and well characterized cohort with 5-800,000 Ascertainment of nuclear families Ages 0-39: infections, asthma and allergy, obesity and diabetes, mental disorders and cognitive dysfunction Ages 40-64: CVD, diabetes, neurodegenerative disorders, cancer

26. KAROLINSKA INSTITUTET jan-eric.litton@meb.ki.se