future trends: translational informatics james j. cimino chief, laboratory for informatics...
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Future Trends: Translational Informatics
James J. CiminoChief, Laboratory for Informatics Development
Mark O. Hatfield Clinical Research CenterNational Institutes of Health
Institute for e-Health Policy, January 12, 2011
Genetics 101
DNA DNA
Transcription
Replication
RNA AminoAcids Proteins
Structures
PathwaysTranslation
Folding
Phenome
Genome
The Genomic Timeline
BacterialGenome
1995
Human Genome
20031953
DNAStructure
Translational Research
The application of research findings in one domain
of study to another, (usually broader) domain.
Type 1 Type 2
ResearchersClinicians
“Type 0”
Bioinformatics
The Roles of Informatics
TranslationalInformatics
ClinicalKnowledge
BiologicKnowledge
ClinicalInformatics
Promise of Translational Informatics
• Diseases predicted by genes
• Effectiveness of prevention
• Diseases indicated by activation
• Appropriate testing
• Drug dose, toxicity and interactions
• Drug effectiveness
Case Study
• Patient with liver cancer and chest pain
• Physician suspects pulmonary embolism
• What is the best, least invasive test?
• Will warfarin work to prevent further emboli?
• What is the warfarin dose for this patient?
• Will warfarin interact with other medications?
How does the nose form?
• Definitely genetic• Not a big protein!• 5 types of tissue• Billions of cells• Coordination in time and space• How many genes?• How many variants?
Phylogeny Phylogeny
Ontogeny
Genomics of a Single Disease
DNA
...16...17...18...
-G-A-G--Pro-Glu-Glu-....5......6......7.....
Hemoglobin A Structure Function
1956
1953 2003
...16...17...18...
-G-T-G--Pro-Val-Glu-....5......6......7.....
Why is this so hard?
DNA DNA RNA AminoAcids Proteins
Pathways
Structures
Replication
Transcription
Translation
Folding
OtherGenes
EnvironmentFactors
Inhibition
Activation
Mutations
• 3 billion base pairs in the human genome• 100 trillion cells in the human body
Denaturation
Types of Translational Informatics
• Locating genetic sequences
• Identifying genetic mutations
• Tracking gene activation
• Modeling protein folding
• Simulating biologic pathways
• Drug discovery
• Personalized medicine
The NIH and Translational Informatics• GenBank
The NIH and Translational Informatics• GenBank
– Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)
The NIH and Translational Informatics• GenBank
– Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)– study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)
The NIH and Translational Informatics• GenBank
– Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)– study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)– archive of genotype-phenotype studies
• Entrez
The NIH and Translational Informatics• GenBank
– Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)– study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)– archive of genotype-phenotype studies
• Entrez– Cross-resource search tool for translational queries
• ClinSeq
The NIH and Translational Informatics• GenBank
– Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)– study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)– archive of genotype-phenotype studies
• Entrez– Cross-resource search tool for translational queries
• ClinSeq– Complete sequencing of 1000 individuals
• Biomedical Translational Research Information System (BTRIS)
The NIH and Translational Informatics• GenBank
– Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)– study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)– archive of genotype-phenotype studies
• Entrez– Cross-resource search tool for translational queries
• ClinSeq– Complete sequencing of 1000 individuals
• Biomedical Translational Research Information System (BTRIS)– reusing clinical research data (1.5 billion rows of data)
• Infobuttons
The NIH and Translational Informatics• GenBank
– Over 100 million sequences (100 billion bases)
• Genome-Wide Association Studies (GWAS)– study disease-specific genetic differences
• Database of Phenome and Genome (dbGAP)– archive of genotype-phenotype studies
• Entrez– Cross-resource search tool for translational queries
• ClinSeq– Complete sequencing of 1000 individuals
• Biomedical Translational Research Information System (BTRIS)– reusing clinical research data (1.5 billion rows of data)
• Infobuttons– delivering translational knowledge to the point of care
Now What?
• This biology stuff is complicated
• Translational research is about applying findings from one domain to another domain
• Translational informatics is the key to communicating data and knowledge between domains
• Translational informatics research is a new field
• We still need:– Informatics research support (NCTR? NCTI? NIBI?)– Training (extramural and intramural)– Support for collaborative efforts (CTSAs)– Centralization of resources for efficiency and equity
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