The Human Genome Project Yann Christinat EPFL

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.

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.

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.

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.

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.

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 Brief We have written the “Book of Human DNA” but we still need to learn how to read it.

For more information National Institutes of Health http://www.genome.gov/10001772 U.S. Department of Energy http://www.ornl.gov./sci/techresources/Human_Genome/project/about.shtml

Thanks for your attention. Questions?

DNA Our 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.