yann christinat epfl. what is it? the sequencing and mapping of the entire human genome (homo...
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The Human Genome Project
Yann ChristinatEPFL
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What is it?The sequencing and
mapping of the entire human genome (Homo Sapiens).
An international 13 years long research project .
The first project to consider ethical, legal, and social issues in genomics.
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Milestones1860 – Gregor Mendel suggests the existence of
genes.1910 – Thomas H. Morgan discovers the
chromosomes.1953 – Watson and Crick describe the double
stranded DNA helix.1975 – Methods to determine the order, or
sequence, of the amino acids are developed.1990 – The Human Genome Project is started.2003 – The whole human genome is decoded two
years ahead of schedule.
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GoalsIdentify the 20,000 – 25,000 genes present in
the human genome.Determine the sequence of the 3 billion base
pairs in human DNA.Store this information in freely available
databases.Improve tools for data analysis.Address the ethical, legal, and social issues
arising in genomics.
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Discoveries on DNAThe order of almost all
nucleotides (99,9%) is exactly the same in all people.
Less than 2% of the genome encodes proteins.
50% of the genome is composed of “Junk DNA”.
Functions are unknown for over 50% of the discovered genes.
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ContributionsMore than 1080 disease genes have been
discovered through the Human Genome Project.
At least 350 biotechnology-based product are now in clinical trials.
Finding a gene causing an inherited disease can be done in a few days instead of years.
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Contributions (cont’d)More than 1,000 tests
for genetic risks.HapMap: A catalog of
common genetic variation in the human genome.
Ethical chart developed and used as model for research in genomics.
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What’s left to do…Find out the gene mechanisms and functions.Explain the chromosome organization.Disease-susceptibility prediction based on
sequence variation.Speed up DNA sequencing and lower its
price to make it publicly available.
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In BriefWe have written the “Book of Human DNA”
but we still need to learn how to read it.
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For more informationNational Institutes of Health
http://www.genome.gov/10001772
U.S. Department of Energyhttp://www.ornl.gov./sci/techresources/Human_Genome/project/about.shtml
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Thanks for your attention.
Questions?
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DNAOur DNA encodes the
information needed to build a human being.
The DNA is a long double helix composed of nucleic acids (A-T, G-C bases).
This information is grouped in 23 pairs of chromosomes each containing several genes.
Genes code for proteins.