NGS-Solutions for Research & Health - GenXPro - Precision … · 2018. 9. 30. · GenXPro`s...
Transcript of NGS-Solutions for Research & Health - GenXPro - Precision … · 2018. 9. 30. · GenXPro`s...
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GenXPro GmbH, Frankfurt am Main
www.genxpro.de
Precision Medicine
by DNA and RNA Profiling
Dr. Björn Rotter | [email protected]
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Frankfurter Innovationszentrum Altenhöferallee 3 60438 Frankfurt Germany
www.genxpro.de Founded December 2005
Staff 14
Competence NGS-based Solutions for Precision Medicine and other fields of life science
Bioinformatics
GenXPro GmbH
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GenXPro`s “TrueQuant” Technique, Patent Approved 2016
Significantly improves sensitivity and accuracy of NGS data. Applied in • Mutation detection • Non Invasive Prenatal Testing • Liquid Biopsies • Gene Expression Analyses • Epigenetic Analyses • Companion Diagnostics
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USP: Massive Analyses of cDNA Ends (MACE) for “Clinical RNA-Seq”
300-500 bp
Advantages
• only 10% sequencing depth required compared to RNA-Seq
• Amount of unnecessary data reduced by 90%
• More robust : degradation of the RNA is less influencing than for RNASeq
• Very accurate quantification
• Works also on MiSeq
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5’ 3’
AAAAAAA-3’ TTTTTTT-5’
cDNA of transcript B
5’ 3’
AAAAAAA-3’ TTTTTTT-5’
cDNA of transcript A
RNA-Seq
Many reads per transcript, the longer, the more fragments...
For the same depth of analysis, RNA-Seq requires about 10-30 times more sequencing*
one read = one transcript
*Asmann et. al 2009
MACE-Seq A
B
RNA-Seq vs. MACE-Seq
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GenXPro Portfolio
Tissue / FFPE
RNA DNA smallRNA
Next Generation Sequencing
• Mutations • CNVs • Methylation
• Gene Expression • Biological Pathways • Fusion Genes
• Expression • Biological Pathways
Biomarkers, Disease Mechanisms, Drug Targets
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DNA smallRNA
Next Generation Sequencing
• Mutations • CNVs • Methylation
• Expression • Biological Pathways
Biomarkers, Disease Mechanisms, Drug Targets
Liquid Biopsies
GenXPro Portfolio
Blood or Urine
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Applications
• Patient stratification • Companion Diagnostics • Drug Repurposing • Treatment Success Monitoring
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Precision Medicine workflow “Molecular Pattern Diagnostics”
Tumor Resection
Histopathology: identification of tumor and normal tissue (FFPE)
DNA & RNA
NG-Sequencing Drug
GenXPro Molecular Tumor Board Software Molecular Pathways & Mutations
GenXPro NGS-Kits
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GenXPro‘s Molecular Pattern Diagnostics is the Next Step in Personalized Medicine
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Example Therapeutic decision based on RNA
Dedifferentiated liposarcoma patient, female, 60 years
Tumor
Molecular Pattern Diagnostics
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Results of DNA Analysis
No actionable mutation for targeted therapy identified
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Results MACE-Seq (RNA) Therapeutic Targets upregulated for therapeutic decision support Drug shown to be effective for this liposarcoma: Pazopanib
Results of molecular tumor board software:
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Expression of Drug Targets for Pazopanib
(Transcripts per Million)
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Treatment decision: Pazopanib
Strong increase of necrosis in tumor after 3 weeks of treatment -> therapeutic effect
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Biomarkers
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Biomarkers: Epigenetic DNA markers in circulating DNA (cfDNA) for Pancreatic cancers
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Predicting survival according to patient transcription profiles Set of Predictor Genes sorts patients into groups with high and low probability of survival A: Alive D: Deceased
Biomarkers: MACE-Seq and RNA-Seq derived Based on machine learning algorithms, Kidney Cancer
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Liver C
irrho
sis
Liver C
irrho
sis
Liver C
ancer
Liver C
ancer
Liver C
irrho
sis
Liver C
ancer
Liver Cancer
Liver Cirrhosis
Biomarkers: small RNA markers in Blood distinguish between liver cancer and cirrhosis
Cancer Cirrhosis
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Distinguish between the tissues of responders and non-responders to the phase II trial of TGF-ß blocker Galunisertib in liver cancer
Biomarkers: MACE-SEQ
Tumor Tissues
no
n-re
spo
nd
ers
resp
on
de
rs
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Price for innovative Precision Medicine Concept
GenXPro‘s CEO Dr. Peter Winter