Yann Christinat EPFL What is it? The sequencing and mapping of the entire human genome (Homo Sapiens). An international 13 years long research project .
Download ReportTranscript Yann Christinat EPFL What is it? The sequencing and mapping of the entire human genome (Homo Sapiens). An international 13 years long research project .
Slide 1
Yann Christinat
EPFL
Slide 2
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.
Slide 3
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.
Slide 4
Goals
Identify 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.
Slide 5
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.
Slide 6
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.
Slide 7
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.
Slide 8
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.
Slide 9
In Brief
We have written the “Book of Human DNA” but we
still need to learn how to read it.
Slide 10
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
Slide 11
Thanks for your attention.
Questions?
Slide 12
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.
Yann Christinat
EPFL
Slide 2
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.
Slide 3
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.
Slide 4
Goals
Identify 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.
Slide 5
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.
Slide 6
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.
Slide 7
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.
Slide 8
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.
Slide 9
In Brief
We have written the “Book of Human DNA” but we
still need to learn how to read it.
Slide 10
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
Slide 11
Thanks for your attention.
Questions?
Slide 12
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.