Understanding how these genes express themselves will provide clues to how diseases are caused. These sections may underlie the creation of new primate-specific genes
THE HUMAN GENOME PROJECT Ma. Veah Luisa O. Pascasio
OUTLINE• Background• Goals and Findings• Mechanism• Benefits and Risks• Ethical, Legal, Social Issues
BackgroundAn international research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional standpoint.
Background• begun formally in 1990• the Human Genome Project is a 13year effort coordinated by the U.S. Department of Energy and the National Institutes of Health.• It was planned to last 15 years, but rapid technological advances have accelerated the expected completion date to 2003.
Goals• identify all the approximate 30,000 genes in human DNA,• determine the sequences of the 3 billion chemical base pairs that make up human DNA,• store this information in databases,
Goals• improve tools for data analysis,• transfer related technologies to the private sector, and• address the ethical, legal, and social issues (ELSI) that may arise from the project.
Goals• To answer the question: – What actually specifies the human organism? What makes us human? This is what medical science is aboutthe specific ways in which we are different from animals.
Findings• Approximately 23,000 genes in human beings, the same range as in mice and roundworms. • The human genome has significantly more segmental duplications (nearly identical, repeated sections of DNA) than other mammalian genomes.• At the time when the draft sequence was published less than 7% of protein families appeared to be vertebrate specific.
Mechanism• Physical and Genetic Map• Partial Sequencing Youtube.com/Human Genome Project. html
Benefits • Knowledge of the effects of variation of DNA among individuals can revolutionize the ways to diagnose, treat and even prevent a number of diseases that affects the human beings.• It provides clues to the understanding of human biology.
Benefits • learning about nonhuman organisms DNA sequences can lead to an understanding of their natural capabilities that can be applied toward solving challenges in health care, energy sources, agriculture, and environmental cleanup.
Benefits • Molecular Medicine – earlier detection of genetic predispositions to disease – gene therapy and control systems for drugs• Microbial Genomics – environmental monitoring to detect pollutants – understanding disease vulnerabilities and revealing drug targets
Benefits • Bioarchaeology, Anthropology, Evolution, and Human Migration – study migration of different population groups based on female genetic inheritance – compare breakpoints in the evolution of mutations with ages of populations and historical events• DNA Forensics (Identification)
RISKS• Enhancement engineering is widely regarded as both scientifically and ethically problematic. From a scientific standpoint, it is unlikely that we will soon be able to enhance normally functioning genes without risking grave side effects.
RISKS• assess health damage and risks caused by radiation exposure, including lowdose exposures• assess health damage and risks caused by exposure to mutagenic chemicals and cancercausing toxins• reduce the likelihood of heritable mutations
Human Genome Project Goals and Completion Dates
• Reference: – The Human Genome Project by Walter Gilbert
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