03 joris veltman
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Transcript of 03 joris veltman
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Human Genetics Nijmegen
Joris Veltman(onderzoeker)
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Human Genetics Nijmegen
Het probleem; Ineffectieve medicijnen!
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1953
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Human Genetics Nijmegen
Het humane genoom
6 miljard bouwstenen
receptenboek voor leven
2001
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Human Genetics Nijmegen
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Human Genetics Nijmegen
NIJMEGEN INTERNATIONALE EXPERT ERFELIJKE ZIEKTEN
SS18/SSX
L1/L2
CDH7
SETBP1
17Q21
TSPAN12
IKAROS
TET2
MYCNEHMT1
P63
SENP1/MESDC2
TBX4CRB1
FXYD2
ZNF674
LARGE
EYS
PRPS1
RPGRIP1L
LCA5
CNTNAP2
ROR2
OFD1
TKS4
GRXCR1
TRPN
MAOA
EPCAMCOL4A3
ESRRB
DFNB59
LRTOMT
TECTACHM
NDP
ABCA4
USH2Aisob
RPGR
VCAN RPGRIP1
PDE6C
CFH
CEP290
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Human Genetics Nijmegen
Fout in bouwstenen DNA ? OF Fout in aantal chromosomen?
Complexiteit genonderzoek beperkt klinische impact!
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Human Genetics Nijmegen
Genomics wordt spotgoedkoop!
Kosten in kaart brengen 1 genoom
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Human Genetics Nijmegen
?
Genoomdiagnostiek in 2015
DNA
Genoomsequentie< 1 uur< 500 euro
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Human Genetics Nijmegen
Nijmegen investeert in genoomsequencing
Roche, GS FLX TitaniumSince 11-2008
Life Technologies, SOLiDSince 9-2009
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Human Genetics Nijmegen
Van sequentie tot genoom:Veel puzzelwerk
Miljoenen korte sequenties per individu
Totale genoomsequentie 1 individu
Supercomputers en Bioinformatica expertise!
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Human Genetics Nijmegen
ACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAGTCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCACACGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGCGGGGCAAACGCACCGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCCAACCACGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAATCGATCGATCGAATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTACGATCGGCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGTCGTCACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCACTCGCTACAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCAGCTAGCTAGCTCCCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAAGCTGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACGCGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACACTCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATTCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGACGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCACTGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCGCGCTCGGCTCTAGCTAGCTAGCTACGATACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGAGCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGGACCACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCATCGCAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCATCCCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACGAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAATCGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCCACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATTCGCGCGGGGGCAAACGCACCAACCACCACAGCGGGGGCAAAGGGGCCAAGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAATCGATCGAAACGCACATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCGCGCTCGGTGCCTAGCTAGCTAGCTACGATACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGATGCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCAAGCCAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCATTAGCTACCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAAACGGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACCCGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACTCGACACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGAT TCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCCAACTGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCTGCTAGCTAGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGTCGTCACCAACCACCACAGTCGCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGGCAAACGCACCAACCACCACTCGCTACAGTCGATCGATCGATCGATCGCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCAGCTAGCTAGCTCCCAACCACCACAGCGGGGGCAAAGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTAAGCTGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACCACCACAGTCGATCGATCGATCGATCGCGCTCGCTAGCTAGCTACGCGCTACGATCGAATCGATCGATCGATCGCGCTCGCTAGCTAGCTAGCTACGATCGAACTCGCTCGCGCGGGGGCAAACGCACCAACACT
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Human Genetics Nijmegen
NRC 13 feb 2010
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Human Genetics Nijmegen
Personal genomics en impact op geneeskunde
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Human Genetics Nijmegen
Waarom reageren mensen verschillend op medicijnen?
Oftewel: Hoe verschillend zijn ze nu echt?
1 miljoen verschillen
5,999 miljardovereenkomsten
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Human Genetics Nijmegen
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Human Genetics Nijmegen
Wie ben ik en wat zijn mijn gezondheidsrisoco’s?
Hoe zit het bij mij?
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Human Genetics Nijmegen
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Human Genetics Nijmegen
Een ander probleem; Recessieve ziekten
Kans opdragerschap1: 1000
Kans op ziekte1: 4,000,000
Kans opdragerschap1: 1000
Indien beide dragerDan kans van 1 op 4!
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Human Genetics Nijmegen
Personalized medicine and the role of genomicsPERSONALIZED GENOMIC MEDICINE
DE TOEKOMST VAN DE GENEESKUNDE!
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Human Genetics Nijmegen
THANK YOU !
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Human Genetics Nijmegen
NEXT