The Human Genome: A Decade of Discovery, Creating a Healthy Future

The Human Genome:
A Decade of Discovery, Creating a Healthy Future

Background Materials

Monday, June 7, 2010

Grand Hyatt Washington
1000 H Street NW
Farragut Square and Lafayette Park Rooms
Washington D.C., 20001
202-582-1234

Explorers such as Columbus, Magellan and Lewis and Clark have much in common with the researchers who produced the human genome. All of them lived a voyage of discovery. Each found a new world - some by crossing oceans in sailing ships, others by peering inward with powerful new machines that decipher digital information. The explorers and genome researchers both brought back the kind of maps that guide future discoveries and change humankinds' view of the world and itself.

The information below provides historic background on projects led by the National Human Genome Research Institute and its collaborators to answer fundamental biological questions about how the human genome works and to advance the use of this knowledge to improve human health. The background may assist you in developing story ideas and framing questions during the panel discussions with the researchers.

No.	Time of Day	Topic/Event	Speaker(s)
1	8:00 a.m.	Arrive and Get Breakfast
2	8:30 a.m.	Welcome and Overview of Day	Eric Green
3	8:40 a.m.	Perspective on the Human Genome Project - Past and Future Presentation Slides: Perspectives on the Human Genome Project Scientific Publications Genomic Medicine -An Updated Primer, NEJM New England Journal of Medicine Opportunities for Research and NIH Science Has the Revolution Arrived? Nature	Francis Collins
4	9:10 a.m.	Reporters Q&A	Francis Collins
PANEL ONE - HOW DOES THE GENOME WORK?
5	9:40 a.m.	A decade of basic research or how does the genome work? 1. Overview of the Human Genome Presentation Slides: The Human Genome - 2010 Press Releases International Human Genome Sequencing Consortium Announces "Working Draft" of Human Genome International Human Genome Sequencing Consortium Publishes Sequence and Analysis of the Human Genome International Consortium Completes Human Genome Project Scientific Publications Initial Sequencing and Analysis of the Human Genome Nature Vision for the Future of Genomics Research Nature The Double Helix - 50 years, Nature supplement Nature Nature News Special: The Human Genome at Ten [nature.com] Ten Years On - The Human Genome and Medicine, NEJM [content.nejm.org] Genomic Medicine -An Updated Primer, NEJM New England Journal of Medicine General Background and Resources: Brief Guide to Genomics Fact Sheet A Guide to Your Genome Brochure Online Education Kit: Understanding the Human Genome Project Talking Glossary of Genetic Terms 2. Discovering What's Important: Comparative Genomics and Evolution, The 10K Genomes Project Presentation Slides: Sequenced Metazoans Press Releases Scientists Propose a 'Genome Zoo' of 10,000 Vertebrate Species [ucsc.edu] Scientific Publications A Proposal To Obtain Whole-Genome Sequence for 10,00 Vertebrate Species General Background and Resources Comparative Genomics Fact Sheet Organisms Targeted by NHGRI Sequencing Program 3. More Than The Genes: Controlling the Genome Presentation Slides: More than the Genes: Controlling the Genome Press Releases: New Findings Challenge Established Views on Human Genome Fly and Worm Models to Teach Researchers About Human Biology and Medicine Scientific Publications: Identification and Analysis of Functional Elements in 1% of the Human Genome by the ENCODE Pilot Project Nature Unlocking the Secrets of the Human Genome Nature 4. Basic Research on the Genome: Human Microbiome Project and Knockout Mouse Project Presentation Slides: The Knockout Mouse Project (KOMP) & KOMP Phenotyping (KOMP²) Human Microbiome Project (HMP Website): http://nihroadmap.nih.gov/hmp/ HMP Press Releases: NIH Launches Human Microbiome Project Human Microbiome Project Awards Funds for Technology Development, Data Analysis and Ethical Research Researchers Establish International Human Microbiome Project NIH Expands Human Microbiome Project; Funds Sequence Centers and Disease Projects Study Finds Unexpected Bacterial Diversity on Human Skin HMP Researchers Publish First Genomic Collection of Human Microbes Knockout Mice Fact Sheet	Mark Guyer Adam Felsenfeld Elise Feingold Jane Peterson
6	10:00 a.m.	Q&A with Reporters
PANEL TWO - GENETIC VARIATION: WHY DOES IT MATTER?
7	10:20 a.m.	What's with all the variation in the genome and what does it mean and how is related to health and disease? 1. HapMap and 1000 Genomes Project Presentation Slides: Human Genetic Variation International HapMap Project Website: www.genome.gov/10001688/international-hapmap-project/ HapMap Press Releases: International Consortium Complete Map of Human Genetic Variation Consortium Publishes Phase II Map of Human Genetic Variation HapMap Scientific Publications: A Haplotype Map of the Human Genome Nature A Second Generation Human Haplotype Map of Over 3.1 Million SNPs 1000 Genomes Project Website: www.genome.gov/27528684/1000-genomes-project/ www.1000genomes.org/page.php Press Releases: International Consortium Announces 1000 Genomes Project Three Sequencing Companies Join 1000 Genomes Project 2. Findings from GWAS Studies and Dark Matter: The Missing Heredity Feature Articles: Finding the Missing Heritability of Human Disease Scientific Publications: Finding the Missing Heritability of Human Disease Nature 3. Epigenetics Website: http://nihroadmap.nih.gov/epigenomics/ General Background and Resources: Epigenomics Fact Sheet	Lisa Brooks Aravinda Chakravarti Andy Feinberg
8	10:40 a.m.	Q&A with Reporters
9	11:00 a.m.	Break
PANEL THREE - DISTRUPTIVE TECHNOLOGY AND THE DATA DELUGE
10	11:15 a.m.	1. Advances in Sequencing Technology Presentation Slides: Advances in Sequencing Technology Website: www.genome.gov/10000368/genome-technology-program/ Press Releases: New Grants Bolster Efforts to Generate Faster and Cheaper Tools for DNA Sequencing NHGRI Seeks DNA Sequencing Technologies Fit for Routine Laboratory and Medical Use NHGRI Uses Recovery Act Funds to Accelerate Genome Research to Improve Human Health Scientific Publications: How to Get Genomes at One Ten-thousandth The Cost, Nature Biotechnology Workshop Reports: The Future of DNA Sequencing at NHGRI 2. The Bioinformatics Challenge: Data Deluge and Analysis Presentation Slides: Genome Informatics Feature Articles: Answers to Genome Analysis May Be in the Clouds General Background and Resources: Bioinformatics Tour of NLM's Bioinformatics Department Genomic Data Resources: Challenges and Promises [nature.com] 3. The View from a Practitioner	Jeff Schloss Vivien Bonazzi Jim Mullikin
11	11:35 a.m.	Q&A with Reporters
12	11:55 a.m.	Break to get food
13	12:15 p.m.	Luncheon Speaker: Considering the Human Genome from a Patient's Point of View Genetic Alliance www.geneticalliance.org/about Scientific Publications: The Case for a US Prospective Cohort Study of Genes and Environment [nature.com] Opportunities for Research and NIH [sciencemag]	Sharon Terry
14	12:35 p.m.	Q&A with Reporters
PANEL FOUR: POPULATION GENOMICS
15	12:50 p.m.	Population Studies Presentation Slides: Population Studies Beyond GWAS - Considering Genes and the Environment Website: NHGRI Office of Population Genomics Scientific Publications: Genes, Environment, and the Value of Prospective Cohort Studies Nature Race and Genetics Presentation Slides: Race/Ethnicity and Genetics: Defining the population to be studied and the interpretation of group/population genomic data Press Releases: NIH Launches Center to Study Genomics and Health Disparities Researchers Uncover Genetic Variants Linked to Blood Pressure in African-Americans Scientific Publications: Race and Ethnicity in the Genome Era: The Complexity of the Constructs [psycnet.apa.org] What We Do and Don't Know About 'Race,' 'Ethnicity,' Genetics and Health at the Dawn of the Genome Era, Nature Genetics	Teri Manolio Charles Rotimi
16	1:10 p.m.	Q & A with Reporters
PANEL FIVE: MEDICAL IMPACT OF GENOMIC RESEARCH
17	1:30 p.m.	Genome sequencing in the clinic panel discussion: 1. ClinSeq and Video of Patient Story Website: www.genome.gov/ClinSeq/ Press Releases and Feature Stories: Trans-NIH Study Explore Medical Role for Genome Sequencing, 2007 Researchers Analyze First Complete DNA Sequence Generated at NIH, 2009 2. The Cancer Genome Atlas (TCGA) Presentation Slides: The Cancer Genome Atlas (TCGA) Website: http://cancergenome.nih.gov/ Press Releases and Feature Stories: NIH Launches Comprehensive Effort to Explore Cancer Genomics [cancergenome.nih.gov] National Institutes of Health to Map Genomic Changes of Lung, Brain, and Ovarian Cancers [cancergenome.nih.gov] NIH Announces Two Integral Components of The Cancer Genome Atlas Pilot Project [cancergenome.nih.gov] NHGRI Funds Large-Scale Sequencing Centers [cancergenome.nih.gov] TCGA Awards Funds for Technology Development [cancergenome.nih.gov] The Cancer Genome Atlas Reports First Results Of Comprehensive Study of Brain Tumors [cancergenome.nih.gov] Scientists Form International Cancer Genome Consortium Recovery Act Investment Enables The Cancer Genome Atlas To Map 20 Cancers [cancergenome.nih.gov] The Cancer Genome Atlas Identifies Distinct Subtypes of Deadly Brain Cancer That May Lead to New Treatment Strategies [cancergenome.nih.gov] TCGA Researchers Discover Novel Molecular Subtype in Patients with Distinct Clinical Features [cancergenome.nih.gov] Scientific Publications: Comprehensive Genomic Characterization Defines Human Glioblastoma Genes and Core Pathways Nature Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1 Cancer Cell Big science: The Cancer Genome Challenge Nature General Background and Resources: Understanding Cancer Genomics Frequently Asked Questions [cancer.gov]	Leslie Biesecker Rick Del Sontro, study subject (invited) Brad Ozenberger
18	1:50 p.m.	Q & A with Reporters
19	2:10 p.m.	Break
PANEL SIX: CREATING MEDICAL BREAKTHROUGHS
20	2:20 p.m.	Success Through Traditional Pathways - Creating a New Drug Now Pending FDA Approval Presentation Slides: The NIH Translational Therapeutics Pipeline Cysteamine Eyedrops for Cystinosis Press Releases: NIH Launches First Center in Nationwide Chemical Genomics Network NIH Creates Nationwide Network of Molecular Libraries Screening Centers to Accelerate Study of Human Biology and Disease NIH Roadmap Initiative Develops More Precise Method for Rapidly Screening Chemical Compounds Novel Approach Targets an Inherited Disorder NIH Collaborates with EPA to Improve the Safety Testing of Chemicals Scientists Identify New Leads for Treating Parasitic Worm Disease NIH Funds Nine Centers to Speed Application of Powerful New Research Approach NIH Announces New Program to Develop Therapeutics for Rare and Neglected Diseases Sigma-Tau Pharmaceuticals Cysteamine Eye Drop NDA Accepted for Filing Feature Stories Finding What's Toxic Fast, 2008 Chemical Genomics Screen Uncovers Clues to Fat Storage, 2008 Taking Aim at Trypanosomes, 2009 NHGRI Researchers Create New Database of Drug-Metabolizing Enzymes General Background and Resources: Stem Cell Information [stemcells.nih.gov] Creating New Pathways to Success - Future Options for the NIH Translational Pipeline: NIH Chemical Genomics Center/Therapies for Rare and Neglected Diseases/Rapid Access to Interventional Development (RAID) Press Releases: NIH Launches Undiagnosed Diseases Program General Background and Resources: Frequently Asked Questions About Rare Diseases Genetic, Rare and Orphan Disease Resources Online NIH Genetic and Rare Disease Information Center	Bill Gahl Chris Austin
21	2:40 p.m.	Q & A with Reporters
PANEL SEVEN: PRIVACY AND TESTING - WHAT DO PEOPLE WANT?
22	2:55 p.m.	Presentation Slides: Preferences for Genetic and Behavioral Health Information: The Impact of Risk Factors and Disease Attributions Genetic Information: What do people really want? The Human Genome: A Decade of Discovery, Creating a Healthy Future Press Releases: NIH Announces Genetic Testing Registry [nih.gov] Feature Stories: NHGRI Creates Informed Consent Web Resource for Genomics Research General Background and Resources: NIH Policies Related to Genomic Data Frequently Asked Questions About the Genetic Information Nondiscrimination Act of 2008 Frequently Asked Questions About Genetic Testing	Joan Scott Suzanne O'Neill Laura Rodriguez
23	3:15 p.m.	Q & A with Reporters
CLOSING REMARKS
24	3:35 p.m.	The Future of Genomics Research: Where Will Tomorrow's Stories Come From? Presentation Slides: The Future of Genomics Scientific Publications Human Genome Project's Five-Year Plan (1991-1995) Human Genome Project's Five-Year Plan (1993-1998) New Goals for the U.S. Human Genome Project: 1998-2003 Vision for the Future of Genomics Research Nature	Eric Green
25	3:50 p.m.	Q & A with Reporters
26	4:00 p.m.	End

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Last Updated: February 7, 2014

Last updated: February 07, 2014

The Human Genome: A Decade of Discovery, Creating a Healthy Future