유전체의학과 미래의학 1 유전체의학_공개용

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  • Genomics/ Biomarker Big Data/ Medical Informatics Smart Device/ Wearable Genome Sequencing Data Science Quantified Self Health Avatar Mobile Health Machine Learning , ,
  • Genomics/ Biomarker Big Data/ Medical Informatics Smart Device/ Wearable Genome Sequencing Data Science Quantified Self Health Avatar Mobile Health Machine Learning
  • Contents 1. Introduction 2. Genetic Variation and Expression Analyses 3. Human Genome Project and Beyond 4. Personalized Medicine in Endocrinology Common Disease Risk Rare Disease Risk Pharmacogenomics
  • 1997
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  • Your estimated lifetime risk $2,000~$3,000
  • Personal Genome Service $99
  • 2013.01.29
  • 3.0 2011.11.23 3.0: '' :
  • 2013.4.25. KBS 9
  • 40 . DNA . 2013.4.25. KBS 9
  • 2013.4.25. KBS 9 60 DNA 2003 , 80% . 13 BRCA2 . 17 , 7 .
  • , . , . " MIT (Broad) " . . 2013.04.04 5 5 2013.06.24
  • 2011 Nature. Charting a course for genomic medicine from base pairs to bedside Genomics and KOREA
  • Contents 1. Introduction 2. Genetic Variation and Expression Analyses 3. Human Genome Project and Beyond 4. Personalized Medicine in Endocrinology Common Disease Risk Rare Disease Risk Pharmacogenomics
  • DNA mRNA Protein Metabolite Epigenetics Genetics Information and OMICs Genomics Epigenomics Transcriptomics Proteomics Metabolomics
  • / / /
  • (%) (%) 1400 1365 97.50% 1462 104.4
  • Food Diabetes Genetic Predisposition Environmental Predisposition Epigenetic change Epigenetic change Diabetic Complications 1. Diabetes Susceptibility 2. Diabetes Complication Pathogenesis
  • Metabolomics 2013 Metabolomics platforms for genome wide association studieslinking the genome to the metabolome Metabolomics
  • Metabolomics - OGTT 2008 Metabolic proling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity
  • 2013 Diabetes. Metabolite profiles during oral glucose challenge
  • Metabolomics Profiling Quantification of 186 metabolites Acylcarnitines Amino Acids Biogenic Amines Hexoses (sum of Hexoses) Phospho and Sphingolipids Phosphatidylcholines LysoPhosphatidylcholines Sphingomyelin Metabolomics
  • Next-Generation Sequencing (NGS) Benchtop Genome Center (90min) 454/FLX (Roche), Solexa (Illumina), SOLiD (AB) 50ng DNA (Sanger=1 ug)
  • Contents 1. Introduction 2. Genetic Variation and Expression Analyses 3. Human Genome Project and Beyond 4. Personalized Medicine in Endocrinology Common Disease Risk Rare Disease Risk Pharmacogenomics
  • 1000 Genomes Samples Population When cell li ne avail. (ap prox) DNA seque nced from b lood Offspring sa mples from trios avail. First set Second set Third set Total Utah residents (CEPH) with Northern and Western Eu ropean ancestry (CEU) Available no yes 100 100 Toscani in Italia (TSI) Available no no 100 100 British from England and Scotland (GBR) Available no no 96 4 100 Finnish from Finland (FIN) Available no no 100 100 Iberian populations in Spain (IBS) Available no yes 30 70 100 Total European ancestry 426 74 500 Han Chinese in Beijing, China (CHB) Available no no 100 100 Japanese in Toyko, Japan (JPT) Available no no 100 100 Han Chinese South (CHS) Available most yes 100 100 Chinese Dai in Xishuangbanna (CDX) Feb-12 some no 100 100 Kinh in Ho Chi Minh City, Vietnam (KHV) Available some some 100 100 Chinese in Denver, Colorado (CHD) (pilot 3 only) Available no no 0 TOTAL East Asian ancestry 300 200 500 Yoruba in Ibadan, Nigeria (YRI) Available no yes 100 100 Luhya in Webuye, Kenya (LWK) Available no no 100 100 Gambian in Western Division, The Gambia (GWD) Aug-12 no yes 100 100 Mende in Sierra Leono (MSL) Aug-12 no yes 100 100 Esan in Nigeria (ESN) Aug-12 no yes 100 100 TOTAL West African ancestry 200 300 500 African Ancestry in Southwest US (ASW) Available no some 61 1 62 African Caribbean in Barbados (ACB) Available yes yes 79 21 100 Mexican Ancestry in Los Angeles, CA (MXL) Available no yes 70 70 Puerto Rican in Puerto Rico (PUR) Available yes yes 70 20 90 Colombian in Medellin, Colombia (CLM) Available no yes 70 19 89 Peruvian in Lima, Peru (PEL) Available yes yes 70 19 89 TOTAL Americas 271 150 79 500 Gujarati Indian in Houston, TX (GIH) Available no no 100 100 Punjabi in Lahore, Pakistan (PJL) May-Aug 20 12 yes yes 100 100 Bengali in Bangladesh (BEB) Aug-12 no yes 100 100 Sri Lankan Tamil in the UK (STU) Aug-12 yes yes 100 100 Indian Telegu in the UK (ITU) Aug-12 yes yes 100 100 TOTAL South Asian ancestry 100 400 500 TOTAL 1197 524 779 2500
  • Wellcome Trust: 10,000 human genomes to uncover disease-causing variants
  • Korean Reference Genome
  • Comprehensive Catalogues of Genomic Data Variation in the human genome Mendelian (monogenic) diseases (N=21,862) as of 2013-06-28 Whole genome sequencing (N=1,000) Four ethnic groups (CEU, YRI, JPT, CHB, N=270) GWAS catalog Complex (multigenic) traits (1647 publications and 10953 SNPs) As of 2013-06-28 Disease-related variations Functional elements in the human genome ENCyclopedia Of DNA Elements
  • Contents 1. Introduction 2. Genetic Variation and Expression Analyses 3. Human Genome Project and Beyond 4. Personalized Medicine in Endocrinology Common Disease Risk Rare Disease Risk Pharmacogenomics
  • Genome-wide Profiling Human Genome(DNA) Study Microarray Proteonomics GWAS, Candidate gene study Familial study Linkage study Genomic Study Genomic Medicine Novel Variant(SNP) DiscoveryNovel Target Discovery GENE for everyone VARIANT based individualization Non-responder of treatment Severe side effect Anti-oxidant Monoclonal antibody for osteoporosis Genetic counseling for rare diseases Sensitive urine test, DM subtype Mendelian disease diagnosis High risk of future osteoporosis High risk of DM complications Diagnosis Treatment Prevention Common Disease Risk Rare Disease Risk Therapeutic Option Novel Disease Target Personalized Medicine
  • Personalized Medicine 2012 European Heart Journal. Personalized medicine: hope or hype?
  • Contents 1. Introduction 2. Genetic Variation and Expression Analyses 3. Human Genome Project and Beyond 4. Personalized Medicine in Endocrinology Common Disease Risk Rare Disease Risk Pharmacogenomics
  • Common Disease Risk 1. Disease Genetic Susceptibility 2. Ethnic Difference 3. Complication Genetic Susceptibility 4. Environmental Interaction 5. Epigenetics 6. Pleiotropy
  • Common Disease Risk 1. Disease Genetic Susceptibility 2. Ethnic Difference 3. Complication Genetic Susceptibility 4. Environmental Interaction 5. Epigenetics 6. Pleiotropy
  • Influence of Genetics on Human Disease For any condition the overall balance of g enetic and environmental determinants ca n be represented by a point somewhere w ithin the triangle. 45 Single Locus / Mendelian Multiple Loci or multi- chromosomal Environmental Cystic Fibrosis Hemophilia A Examples: Alzheimers Disease Type II Diabetes Cardiovascular Diseas Diet Carcinogens Infections Stress Radiation Lifestyle Gene = F8 Gene= CFTR F8 = Coagulation Factor VIII CFTR = Cystic Fibrosis Conductance Transmembrane Regulator Lung Cancer
  • 2008 HMG Genome-based prediction of common diseases- advances and prospects
  • 2008 HMG Genome-based prediction of common diseases- advances and prospects
  • Varian

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