1. THE HUMAN
GENOME PROJECT
Ma. Veah Luisa O. Pascasio

2. OUTLINE
• Background
• Goals and Findings
• Mechanism
• Benefits and Risks
• Ethical, Legal, Social Issues

3. Background
An 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.

4. 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.

5. 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,

6. 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.

7. 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.

8. 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.

9. Mechanism
• Physical and Genetic Map
• Partial Sequencing
Youtube.com/Human Genome Project. html

10. 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.

11. 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.

12. 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

13. 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)

14. 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.

15. 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

16. Human Genome Project
Goals and
Completion Dates

17. • Reference:
– The Human Genome Project by Walter Gilbert