Human Genome Project
In 2003 scientists in theHuman Genome Projectobtained the DNA sequence ofthe 3 billion base pairs makingup the human genome
How they did it…
•DNA from 5 humans
•2 males, 3 females
•2 caucasians, one each ofasian, african, hispanic
•Cut up DNA withrestriction enzymes
•Ligated into BACs & YACs,then grew them up
•Sequenced the BACs
•Let a supercomputer putthe pieces together
What we’ve learned so far from theHuman Genome Project
•The human genome is nearly the same (99.9%) inall people
•Only about 2% of the human genome containsgenes, which are the instructions for makingproteins
•Humans have an estimated 30,000 genes; thefunctions of more than half of them are unknown
•Almost half of all human proteins share similaritieswith other organisms, underscoring the unity oflive
•About 75% of the human genome is “junk”
How does the human genome stackup?
Organism
Genome Size (Bases)
Estimated Genes
Human (Homo sapiens)
3 billion
30,000
Laboratory mouse (M. musculus)
2.6 billion
30,000
Mustard weed (A. thaliana)
100 million
25,000
Roundworm (C. elegans)
97 million
19,000
Fruit fly (D. melanogaster)
137 million
13,000
Yeast (S. cerevisiae)
12.1 million
6,000
Bacterium (E. coli)
4.6 million
3,200
Human immunodeficiency virus(HIV)
9700
9
Much is still unknown!
Anticipated Benefits ofGenome Research
Molecular Medicine
• improve diagnosis of disease• detect genetic predispositions to disease• create drugs based on molecular information• use gene therapy and control systems asdrugs• design “custom drugs” (pharmacogenomics)based on individual genetic profiles
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
Anticipated Benefits ofGenome Research
Microbial Genomics
• rapidly detect and treat pathogens (disease-causing microbes) in clinical practice• develop new energy sources (biofuels)• monitor environments to detect pollutants• protect citizenry from biological and chemicalwarfare• clean up toxic waste safely and efficiently
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
Risk Assessment
• evaluate the health risks faced by individualswho may be exposed to radiation (including lowlevels in industrial areas) and to cancer-causingchemicals and toxins
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
Anticipated Benefits ofGenome Research-cont.
Bioarchaeology, Anthropology, Evolution,and Human Migration
• study evolution through germline mutations inlineages• study migration of different population groupsbased on maternal inheritance• study mutations on the Y chromosome totrace lineage and migration of males
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
Anticipated Benefits ofGenome Research-cont.
DNA Identification (Forensics)
• identify potential suspects whose DNA maymatch evidence left at crime scenes• exonerate persons wrongly accused ofcrimes• identify crime and catastrophe victims• establish paternity and other familyrelationships
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
Anticipated Benefits ofGenome Research-cont.
Agriculture, Livestock Breeding, andBioprocessing
• grow disease-, insect-, and drought-resistantcrops• breed healthier, more productive, disease-resistant farm animals• grow more nutritious produce• develop biopesticides• incorporate edible vaccines incorporated intofood products
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
Anticipated Benefits ofGenome Research-cont.
Anticipated Benefits:
• improved diagnosis of disease
• earlier detection of geneticpredispositions to disease
•gene therapy and control systemsfor drugs
• personalized, custom drugs
Medicine and the NewGenetics
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
Gene Testing Pharmacogenomics GeneTherapy
ELSI: Ethical, Legal,and Social Issues
• Privacy and confidentiality of geneticinformation.
• Fairness in the use of genetic information byinsurers, employers, courts, schools, adoptionagencies, and the military, among others.
• Psychological impact, stigmatization, anddiscrimination due to an individual’s geneticdifferences.
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
ELSI: Ethical, Legal,and Social Issues
• Reproductive issues including adequate andinformed consent and use of genetic informationin reproductive decision making.
• Clinical issues including the education ofdoctors and other health-service providers,people identified with genetic conditions, and thegeneral public about capabilities, limitations, andsocial risks; and implementation of standards andquality‑control measures.
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
ELSI Issues (cont.)
• Uncertainties associated with gene tests forsusceptibilities and complex conditions (e.g.,heart disease, diabetes, and Alzheimer’sdisease).
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
ELSI Issues (cont.)
• Health and environmental issues concerninggenetically modified (GM) foods and microbes.
• Commercialization of products includingproperty rights (patents, copyrights, and tradesecrets) and accessibility of data and materials.
U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003