HUMAN GENOME PROJECT

Stephanie HuffCAS 100A

Penn State Hazleton3/25/09

Overview:

Introduction Main Aspects of Genetics

Main Points What is the Human Genome Project

(HGP)? Some Major Findings Benefits and Implications

Conclusion What this means for the future

The Human Genome

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Made up of DNA, which has four different chemical building blocks:

DNA from all organisms is made up of the same chemical and physical components.

The DNA sequence (3 billion bases) is the particular side-by-side arrangement of bases along DNA strand (e.g. ATTCCGGA) for each unique individual. These are called bases that and are abbreviated A, T, C, and

G. Form the rungs of the double-helix model.

Estimates of 20-25,000 genes in the human genome. The human genome is arranged into 24 distinct

chromosomes (range from 50-250 million base pairs each). To put into perspective:

To get an idea of the size of the human genome present in each of our cells, consider the following analogy: If the DNA sequence of the human genome were compiled in books, the equivalent of 200 volumes the size of a Manhattan telephone book (at 1000 pages each). This would take about 9.5 yrs to read out loud at a rate of 10 bases per second. This would also take up 3 gigabytes of computer data storage space to store the entire nucleotide sequence of the human genome.

Example of partial DNA sequencing

1. Subcloning- bases broken into shorter pieces.2. Fragments are sequenced separately and dyed by

fluorescent dyes to differentiate.3. Sequenced fragments are put together and the

bases are “read” and later analyzed for errors, gene-coding regions, and other characteristics.

“It’s a history book- a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent, and cure diseases”

-- Francis Collins, director of NHGRI

Main Point 1 What is the Human Genome Project?

The Human Genome Project (HGP) was formally started in October 1990 and was expected to run for 15 years, but was finished early after 13 years in 2003.

The Department of Energy's Human Genome Program and the National Institutes of Health's National Human Genome Research Institute (NHGRI) together sponsored the U.S. Human Genome Project.

It is an international effort: Some 18 countries have participated in

the worldwide effort, with significant contributions from the Sanger Center in the United Kingdom and research centers in Germany, France, and Japan.

They allocated money to many laboratories across the U.S. to complete the research.

Overall Goals of HGP:

To determine the complete sequence of the 3 billion chemical base pairs that make up DNA.

Identify all human genes: Approximately 20,000-25,000 genes in human DNA Determine the sequences of the 3 billion chemical base pairs that make

up human DNA Store this information in databases Improve tools for data analysis

Make them accessible for further biological study. Address the ethical, legal, and social issues (ELSI) that may arise from

the project. Transfer related technologies to the private sector Relate studies involving parallel sequencing of other “model” organisms

to help develop the technology and interpret human gene function. Called Comparative Genomics

Has included humans, rats, mice, fruit flies, and E. coli and other types of bacteria.

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Process…

The human genome reference sequences do not represent any one person’s genome. Rather, they serve as a starting point for broad comparisons across humanity.

The knowledge obtained from the sequences applies to everyone because all humans share the same basic set of genes and genomic regulatory regions that control the development and maintenance of their biological structures and processes.

In the international public-sector Human Genome Project (HGP), researchers collected blood (female) or sperm (male) samples from a large number of donors. Only a few samples were processed as DNA resources.

Main Point 2Some Major Findings:

The first gene was completed in 2001. The completion of the human DNA sequence

in the April of 2003. This coincided with the 50th anniversary of Watson

and Crick's description of the fundamental structure of DNA.

Final HGP papers were published in 2006. In-depth analyses of complete chromosomes

continue to be published currently. The analytical power arising from the

reference DNA sequences of entire genomes and other genomics resources has jump-started what some call the "biology century.“

Post-Sequencing Research Challenges: What happens now that the human genome

sequence is completed? The working-draft DNA sequence and the more polished

2003 version represent an enormous achievement, Much work remains to realize the full potential of the

accomplishment. Early explorations of the human genome, now joined by

projects on the genomes of several other organisms, are generating data whose volume and complex analyses are unprecedented in biology. Genomic-scale technologies will be needed to study and

compare entire genomes, sets of expressed RNAs or proteins, gene families from a large number of species, variation among individuals, and the classes of gene regulatory elements.

Deriving meaningful knowledge from DNA sequences will define biological research through the coming decades and require the expertise and creativity of teams of biologists, chemists, engineers, and computational scientists, among others. Gene number, exact locations, and functions and regulation.

Main Point 3Benefits and Implications of Genome Research

Technology and resources generated by the Human Genome Project and other genomics research are already having a major impact on research across the life sciences.

The potential for commercial development of genomics research presents U.S. industry with a wealth of opportunities, and sales of DNA-based products and technologies in the biotechnology industry are projected to exceed $45 billion by 2009 (Consulting Resources Corporation Newsletter, Spring 1999).

Energy sources and environmental applications Use microbial genomics research to:

Create new energy sources (biofuels) develop environmental monitoring techniques to detect

pollutants Safe, efficient environmental remediation Carbon sequestration

Health damage and risk assessment Caused by radiation, chemicals, and cancer-causing toxins.

Bioarchaeology, Anthropology, Evolution, Population Migration Study evolution through Study migration of different population groups Study genetic mutations

DNA forensics (identification) Crime Scene Investigation Court Cases (Evidence) Establish paternity and other family relationships Match organ donors

Some current and potential applications of genome research include:

Agriculture, livestock breeding, and bioprocessing Caused by radiation exposure, including low-

dose exposures or alternative treatments. Mutagenic chemicals and cancer-causing toxins Reduce the likelihood of inheritable mutations

Bioarchaeology, anthropology, evolution, and human migration Study evolution through genetic lineages Study migration of different populations

Poster depicting the resources gained from Human Research Project research.

How will the HGP impact medicine? Development of the field of Genomics- understanding iiiigenetic material on a large scale. Learning about genetic disorders, genes, and proteins Improved diagnosis of disease Earlier detection of genetic predispositions to disease Gene therapy being used to cure disease Genetic counseling Enhance current genetic testing (Alzheimer’s , Cystic iiiifibrosis, etc.) and develop new tests to diagnose iiiipatients. Rational drug design based on protein composition rather I than trial and error—Pharmogenomics “custom drugs” Develop new ways to treat, cure, and prevent thousands of diseases that afflict humankind. Help to determine major environmental factors that I cause diseases. Ultimately replace or supplement defective genes.

CONCLUSION

Q and A:

Contact Information: Stephanie Huff

E-mail: smh5265@psu.edu

References http://www.ornl.gov/sci/techresources/Human_Genome/project/ab

out.shtml

http://www.genome.gov/10001772

http://www.ncbi.nlm.nih.gov/SCIENCE96/chr.cgi?2

http://www.accessexcellence.org/RC/AB/IE/Intro_The_Human_Genome.php

http://library.thinkquest.org/28599/human_genome.htm

http://www.genome.gov/12011238