1. The document discusses the potential for personalized genomic medicine to improve drug effectiveness by taking into account individual genetic differences between people. 2. As DNA sequencing becomes faster and cheaper, it will soon be possible to sequence an entire human genome in under an hour for less than 500 euros. This genomic information could help determine individual disease risks and best treatment options. 3. One challenge is analyzing the massive amounts of sequencing data to assemble complete genomic sequences. Advanced computing and bioinformatics expertise are needed to puzzle together millions of short DNA sequences.

1. Joris Veltman (onderzoeker)

2. Personalized genomic medicine Joris Veltman j.veltman@antrg.umcn.nl www.genomicdisorders.nl

3. Het probleem; Ineffectieve medicijnen!

4. 1953

5. Het humane genoom receptenboek voor leven 6 miljard bouwstenen 2001

7. NIJMEGEN INTERNATIONALE EXPERT ERFELIJKE ZIEKTEN VCAN CFH CHM USH2Aisob RPGRIP1 TECTA NDP EHMT1 EYS MYCN FXYD2 DFNB59 TSPAN12 ABCA4 CDH7 ESRRB P63 LARGE PDE6C SETBP1 RPGRIP1L OFD1 17Q21 LRTOMT TKS4 IKAROS MAOA SS18/SSX CEP290 SENP1/MESDC2 ZNF674 CNTNAP2 GRXCR1 TET2 CRB1 PRPS1 TBX4 RPGR TRPN L1/L2 LCA5 ROR2 EPCAM COL4A3

8. Complexiteit genonderzoek beperkt klinische impact! Fout in bouwstenen DNA ? OF Fout in aantal chromosomen?

9. Genomics wordt spotgoedkoop! Kosten in kaart brengen 1 genoom

10. Genoomdiagnostiek in 2015 DNA ? Genoomsequentie < 1 uur < 500 euro

11. Nijmegen investeert in genoomsequencing Roche, GS FLX Titanium Since 11-2008 Life Technologies, SOLiD Since 9-2009

12. Van sequentie tot genoom:Veel puzzelwerk Miljoenen korte sequenties per individu Supercomputers en Bioinformatica expertise! Totale genoomsequentie 1 individu

13. ACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAGTCGA ATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCACA CGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGA TCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGCGGGGCAAACGCACCG GCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCCAACCAC GCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAATCGATCGATCGA ATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCGCGCTCG CTAGCTAGCTAGCTACGATACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTACGATCG GCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGTCGT CACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCACTCGCTA CAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCAGCTAGCTAGCTC CCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAAGCT GCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACGC GCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACACT CACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATTCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGAC GCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCACT GCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAATCGATCGCG ATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCGCGCTCGGCT CTAGCTAGCTAGCTACGATACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGA GCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGGAC CACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCATCG CAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCATC CCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACGA GCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAATC GCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCCAC CACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATTCGCGCGGGGGCAAACGCACCAACCACCACAGCGGGGGCAAAGGGGCCAA GCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAATCGATCGAAACGCAC ATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCGCGCTCGGTGC CTAGCTAGCTAGCTACGATACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGAT GCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACG CACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCAAGC CAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCATTAGCTA CCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAAACG GCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACCC GCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACTCGA CACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGAT TCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCCAACT GCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCT GCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGTCGT CACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCACTCGCTA CAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCAGCTAGCTAGCTC CCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAAGCT GCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACGC GCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACACT

14. NRC 13 feb 2010

15. Personal genomics en impact op geneeskunde

16. Waarom reageren mensen verschillend op medicijnen?Oftewel: Hoe verschillend zijn ze nu echt? 5,999 miljard overeenkomsten 1 miljoen verschillen

18. Wie ben ik en wat zijn mijn gezondheidsrisoco’s? Hoe zit het bij mij?

20. Een ander probleem; Recessieve ziekten Kans op dragerschap 1: 1000 Kans op dragerschap 1: 1000 Indien beide drager Dan kans van 1 op 4! Kans op ziekte 1: 4,000,000

21. Personalizedmedicine and the role of genomics PERSONALIZED GENOMIC MEDICINE DE TOEKOMST VAN DE GENEESKUNDE!

22. THANK YOU !

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