1. Human Genome Project Daniel Ospina Joaquín Llano

2. What is it?  It is a international scientific research project with the primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000 – 25000 genes of the human genome form both a physical and functional standpoint.  Genome is the whole genetic information of an organism.

3. Background Information

4. Goals  Understand The genetic makeup of the human species.  The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is the domain of bioinformatics. The work of expert advance slowly, computer programs are increasingly used to meet the high throughput demands of genome sequencing projects. The best technologies for annotation make use of statistical models that take advantage of parallels between DNA sequences and human language, using concepts from computer science such as grammars.

5. Goals  All humans have unique gene sequences. Therefore the data published by the human genome project does not represent the exact sequence of every individuals genome.  HGP genome is very important for the future work in identifying differences among individuals.

6. Findings  There are approximately 23000 genes in human beings, the same range as in mice and roundworms. Understanding how these genes express themselves will provide clues to how diseases are caused  Between 1.1% to 90% of genome sequence codes for proteins  The human genome has significantly more segmental duplications (nearly identical, repeated sections of dna) than other mammalian genomes. These sections may be the reason of the creation of new primate specific genes

7. History  The project began in October 1990 and was initially headed by air patrinos, head of the office of biological and enviromental research in th us. A working draft of the genome was announced in 2000 and a complete one in 2003, but more detail analysis are still being published. Most of the government sponsored was performed in universities from the E.E.U.U, UK, Japan France and Germany.

8. Beneficial Repercussions Gaining knowledge in DNA variations have been studied to respect beneficially to our world: New ways to diagnose, treat and prevent body disorders; provide new advances in medicine and biotechnology. Understand the natural capabilities of organisms and how they act in pro of health care, energy production, environmental remediation and carbon sequestration (cellular processes).

9. Beneficial Repercussions The project catalyzed the multibillion-dollar U.S. biotechnology industry and fostered the development of new medical applications. Clearance in the evolutionary processes in terms of molecular biology, clearance in similarities of ancestors between organisms.

10. Negative Repercussions (Ethical, social and legal challenges)  Companies, ethnic population and other groups of interest have questioned the disguised motives of HGP and have determined various questions that describe the potential impact it has in their living.  It is said that governments have been investing in various projects of this kind in areas or populations with no previous alert, this is noted to violate human rights and group rights as sometimes this type of studies represent a “clash of cultures”.  Fairness in the use of genetic information

11. Clinical issues including the education of doctors and other health service providers, patients, and the general public in genetic capabilities, scientific limitations, and social risks; and implementation of standards and quality-control measures in testing procedures. Conceptual and philosophical implications regarding human responsibility, free will vs. genetic determinism, and concepts of health and disease. Health and environmental issues concerning genetically modified foods (GM) and microbes. Privacy and confidentiality of genetic information. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml

12. Commercialization of products including property rights (patents, copyrights, and trade secrets) and accessibility of data and materials. Reproductive issues including adequate informed consent for complex and potentially controversial procedures, use of genetic information in reproductive decision making, and reproductive rights. Uncertainties associated with gene tests for susceptibilities and complex conditions (e.g., heart disease) linked to multiple genes and gene-environment interactions. Psychological impact and stigmatization due to an individual's genetic differences. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml

13. Potential Applications  Molecular medicine.  Energy sources and environmental applications.  Risk assessment.  Anthropology, evolution, and human migration.  DNA forensics (identification).  Agriculture, livestock breeding, and bioprocessing. http://www.ornl.gov/sci/techresources/Human_Genome/project/benefits.shtml

14. Case: Application in scientific investigation Someone researching a form of cancer could have the possibility to access a wide range of information about certain gene or cell which includes studies of other people that refer to:  Structure  Functions  Evolutionary relationships with other genes  Possible mutations  Interactions and influences in the body  Diseases related with the certain gene or cell

15. Video

17. Bibliography  http://www.sanger.ac.uk/about/history/hgp/ http://www.sanger.ac.uk/about/history/hgp/  http://www.ornl.gov/sci/techresources/Human_Genome/h ome.shtml http://www.ornl.gov/sci/techresources/Human_Genome/h ome.shtml  http://www.ornl.gov/sci/techresources/Human_Genome/p roject/about.shtml http://www.ornl.gov/sci/techresources/Human_Genome/p roject/about.shtml  http://www.ornl.gov/sci/techresources/Human_Genome/p roject/benefits.shtml http://www.ornl.gov/sci/techresources/Human_Genome/p roject/benefits.shtml  http://en.wikipedia.org/wiki/Human_Genome_Project http://en.wikipedia.org/wiki/Human_Genome_Project  http://www.genome.gov/10001772 http://www.genome.gov/10001772  http://genomics.energy.gov/ http://genomics.energy.gov/  Pearson Baccalaureate SL Biology  http://www.ornl.gov/sci/techresources/Human_Genome/el si/elsi.shtml http://www.ornl.gov/sci/techresources/Human_Genome/el si/elsi.shtml