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Yann Christinat
EPFL


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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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Milestones
 1860 – 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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Goals
 Identify the 20,000 – 25,000 genes present in the
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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 DNA
 The 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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Contributions
 More 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 Brief
We have written the “Book of Human DNA” but we
still need to learn how to read it.


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For more information
 National Institutes of Health

http://www.genome.gov/10001772
 U.S. Department of Energy

http://www.ornl.gov./sci/techresources/Human_Geno
me/project/about.shtml


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Thanks for your attention.
Questions?


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DNA
 Our DNA encodes the

information needed to build a
human being.
 The DNA is a long double helix
composed of nucleic acids (AT, G-C bases).
 This information is grouped in
23 pairs of chromosomes each
containing several genes.
 Genes code for proteins.