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GeneticsGenetics101101

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April 23, 1953April 23, 1953

Watson & Crick’s Watson & Crick’s discovery of the DNA helixdiscovery of the DNA helix

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GGCACGAGGGTAAATATGGCATAAGTTAATAACA CTTTTCCCCAAAATGGTGCTTTGGATTTGAAAAGG

GTCTGATGGGGAGAAGGAGAACGTATCATCCTAGC TTCCTCTCTTAATAAACCTAGAAAAACGGGTAGTA

AACTGTGGATAGTCAGGAAAACACCCAGCAAGGGA CACAGC TGTCAGGAAATGAATCTTCCCCCCAACCC CCACCATGCAGATGGATAGACAGAATCTTTCCTGA

CTAGTCATTAGGATCAGGGGCCTCTGTTGGATTTGT GTTTCTTGAAGAATAGCTGGCAGAGTGGTATAAAA

GACACGAATATCTCCTGGTCTATAAGGATACTCTGA TTTGGGGTTTGCATTTTTCATGGTTTTTATTTCCTGT

TCCCCCTGGAGTTTTCCATTAGTGAGTTTTTG

Completion of the Completion of the Human Genome Human Genome

ProjectProjectApril 14, 2003April 14, 2003

Entering the Genomic EraEntering the Genomic Era

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What is DNA?What is DNA?

Image from the National Cancer Institute

• Image from U.S. Department of Energy Human Genome Program http://www.ornl.gov/hgmis

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WHAT IS THE WHAT IS THE HUMAN HUMAN

GENOME GENOME PROJECT?PROJECT?

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AN INTERNATIONAL AN INTERNATIONAL COLLABORATIVE COLLABORATIVE

EFFORT OF SCIENTISTSEFFORT OF SCIENTISTSUnited KingdomUnited Kingdom

FranceFranceGermanyGermany

JapanJapanChina China

United StatesUnited States

Led by the National Human Genome Institute, Led by the National Human Genome Institute, National Institutes of Health in Bethesda, MDNational Institutes of Health in Bethesda, MD

http://www.genome.govhttp://www.genome.gov

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GOAL ACHIEVEDGOAL ACHIEVED

To Spell Out To Spell Out All of the All of the

Base Pairs in Base Pairs in the Human the Human

GenomeGenome

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What is the What is the big deal about big deal about knowing the knowing the

code?code?

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Apply basic Apply basic scientific scientific findings findings to healthto health

Genetics in the news

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Genetics in the news

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Chromosomes

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How a dominant trait is inherited

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How a recessive trait is inherited

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Our genetic story Our genetic story is expressed is expressed

through our family through our family historyhistory

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Pedigree of a Family with Whirling DisorderPedigree of a Family with Whirling Disorder(‘discovered’ by the (‘discovered’ by the

Genetic Science Learning Center at the University of Utah)Genetic Science Learning Center at the University of Utah)

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And if we And if we know all of this know all of this

– what next?– what next?

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Genetic TestingGenetic TestingPrenatal screening, Prenatal screening,

newborn screening, genotyping, newborn screening, genotyping, predictive testing, predictive testing, prognostic testing, prognostic testing, cancer profiling, cancer profiling,

infectious disease testinginfectious disease testing

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Interventions, Interventions, TreatmentsTreatments

&&TherapiesTherapiesPharmacogenomics, gene therapyPharmacogenomics, gene therapy

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Forensic Forensic ApplicationsApplications

DNA testing for positive identification of DNA testing for positive identification of missing persons, or human remains; for missing persons, or human remains; for

exonerating unjustly incarcerated prisonersexonerating unjustly incarcerated prisoners

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Non-medical Non-medical UsesUses

Paternity, Enhancement, Paternity, Enhancement, Comparative Genomics, Human HistoryComparative Genomics, Human History

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Ethical, Legal Ethical, Legal and Social and Social

ImplicationsImplications

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Privacy and Genetic Privacy and Genetic NondiscriminationNondiscrimination

Disparities Disparities

Human Research Participant Human Research Participant ProtectionsProtections

Reproductive Decision Making Reproductive Decision Making

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Who Works Who Works on this Stuff?on this Stuff?

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ResearchersResearchersCliniciansCliniciansEthicistsEthicists

Policy MakersPolicy Makers

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Who Makes Who Makes the Decisions?the Decisions?

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YouYouYour FamilyYour Family

Your CommunityYour CommunityOur Policy MakersOur Policy Makers

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Informed Decision MakingInformed Decision Making

CommunityCommunityCommunityCommunity

HealthcareEnterprise

ResearchEnterprise

FamilyFamilyFamilyFamily

IIPOLICYPOLICY

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WELCOME TO WELCOME TO THE GENOME THE GENOME

ERA!!ERA!!

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Credits:Credits:Author: Sharon Terry, President & CEO, Genetic Alliance Author: Sharon Terry, President & CEO, Genetic Alliance

Reviewers:Reviewers:Emily Soper, Information Specialist, Genetics and Rare Disease Emily Soper, Information Specialist, Genetics and Rare Disease

Information CenterInformation CenterRoxane Brown, Outreach Program ManagerRoxane Brown, Outreach Program Manager

Patrick Terry, Director of Consumer Advocacy, Genomic Health Patrick Terry, Director of Consumer Advocacy, Genomic Health

We also express our appreciation to:We also express our appreciation to:National Human Genome Research Institute (NHGRI), NIH, DHHS National Human Genome Research Institute (NHGRI), NIH, DHHS Genetic Services Branch, Maternal and Child Health, DHHSGenetic Services Branch, Maternal and Child Health, DHHSOffice of Rare Diseases, NIH, DHHSOffice of Rare Diseases, NIH, DHHSDepartment of Energy, DHHSDepartment of Energy, DHHS