Human Genome Project

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Farah Yaseen
Mam Kalsoom
2022-ag-5339
 Human Genome Project
• The Human Genome Project (HGP) is one of the greatest scientific feats in history.
• The project was a voyage of biological discovery led by an international group of
researchers looking to comprehensively study all of the DNA (known as a genome)
of a select set of organisms.
• Launched in October 1990 and completed in April 2003, the Human Genome
Project’s signature accomplishment – generating the first sequence of the human
genome – provided fundamental information about the human blueprint, which has
since accelerated the study of human biology and improved the practice of medicine.
 What is Human Genome?
• The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the
23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
• These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include
both protein-coding DNA sequences and various types of DNA that does not encode proteins.
• The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal
RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs.
• It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles,
such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable
elements, inserted viral DNA, non-functional pseudogenes and simple, highly repetitive sequences. Introns make up a
large percentage of non-coding DNA.
• Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on
the total amount of junk DNA.
 Introduction to Human Genome Project
• The Human Genome Project is an International scientific research project
whose primary mission is to decipher the chemical sequence of the complete
human genetic material (i.e., the entire genome).
• Identify all 50,000 to 100,000 genes contained within the genome, and
provide research tools to analyze all this genetic information.
• Sequenced the entire human genome
• Ran from 1990 to 2003
• Cost $2.7 billion
 Objectives of HGP

Objectives of the human genome project include:

• Optimization of the data analysis.
• Sequencing the entire genome.
• Identification of the complete human genome.
• Creating genome sequence databases to store the data.
• Taking care of the legal, ethical and social issues that the project may pose.
 Techniques
• Expressed sequence tags wherein the genes were differentiated into the ones forming a part
of the genome and the others which expressed RNAs.
• Sequence Annotation wherein the entire genome was first sequenced and the functional tags
were assigned later.
• Gel Electrophoresis: separated DNA fragments by size
• DNA Sequencing: Sanger method determined the order of bases in DNA
• Fluorescent in situ Hybridization (FISH): Located specific DNA
sequences on chromosomes
• Comparative Genomics: compared human genome to other species
 Applications and Proposed benefits

• One of the potential benefits is in the field of molecular medicine. The benefits
in this field could include better diagnosis of disease, early detection of certain
diseases, and gene therapy and control systems for drugs. In the future there
should be new treatments in molecular medicine that don't treat the symptoms
but look at the causes of the problem at hand.
• Another field that may reap the benefits of the HGP is the field of microbial
genomics. This field may be able to find new energy sources, through the
sequencing of a bacterial genome. This could lead to discoveries that are useful
in energy production, toxic waste reduction, and industrial processing.
 Applications and Proposed benefits

• The HGP can also be very useful for the understanding of human evolution and human
migration. It may help lead scientists to find out how humans have evolved and how
humans are evolving today. It will also help to understand the common biology that we
share with all life on earth. Comparing our genome with others may help to lead to
associations of diseases with certain traits.
• Another that will undoubtedly receive monumental benefits from the HGP is the field of
agriculture and livestock breeding. This technology could help to develop disease,
insect, and drought resistant crops thus being able to produce more for the world. It
would also help to produce healthier, more productive, and possibly disease resistant
animals to be sent to market.
 Outcomes
• The HGP benefited biology and medicine by creating a sequence of the human genome;
sequencing model organisms; developing high-throughput sequencing technologies; and
examining the ethical and social issues implicit in such technologies.
• The project also helped advance policies for openly sharing scientific data. The draft
human genome sequence was made publicly available, setting a precedent for making
medical research information freely available both to other researchers and to the public.
• Human Genome Project also drove improvements in information technology, because
researchers needed better computers in order to analyze and record the enormous
amounts of data they were producing.
Outcomes
 Ethical, Legal & Social Issues

Some Ethical, Legal & Social Issues are:

• Privacy and data sharing
• Discrimination based on genetic information
• Equitable access to genetic testing and benefits
• Informed consent and regulation of genetic research
• Uncertainties
• Conceptual and philosophical implications
 Future Perspectives
• Genomics will be applied in the future to clinical disease diagnosis and prognosis. Liquid biopsy for
early disease detection will be a huge advance in healthcare
• Genome sequencing has enormous value as a diagnostic tool. There are thousands of gene
variants that cause or contribute to diseases; with fast, cheap, and accurate whole genome
sequencing, doctors could find those genetic risk factors before any symptoms arise.
• With the HGP providing a template for the human genome, doctors hope to someday understand the
genetic changes that lead to cancer and develop more effective cancer treatments targeting those
specific mutations. Geneticists have compiled their findings into the Cancer Genome Atlas,
a publicly available database of the genomes found in thousands of different types of cancer.
• The complete DNA sequencing of more and more organisms, including humans, will revolutionize
biology and medicine.
 References
• 1. Human Genome Project Information. Obtained from the WWW 10/19/99: 10/11/99:
http://www.ornl.gov/hgmis/.
• 2. The Human Genome Project. Obtained from the WWW 10/19/99: 1992:
http://www.accessexcellence.org/.
• 3. The Human Genome Project. Obtained from the WWW 10/19/99: 1/5/99:
http://www.nhgri.nih.gov/.
• 4. Marshall, Elliot. New Goals for the U.S. Human Genome Project: 1998-2003. Science.
Vol. 282. Pg.682-688. Oct. 23, 1998.
• 5. Marshall, Elliot. Whose Genome Is It Anyway? Science. Vol.273. pg 1788-1789. Sept. 27,
1996.