The Human Genome Project

Yann ChristinatEPFL

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.

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.

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.

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.

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.

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.

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.

In BriefWe have written the “Book of Human DNA”

but we still need to learn how to read it.

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

Thanks for your attention.

Questions?

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.