The Human Genome
The Human Genome
The Human Genome
In 1990, the U.S Department of Energy and the National Institutes of Health
(NIH) joined with international partners in an expedition to sequence all 3 billion
chemical base pairs in the human genome which is the complete set of DNA in the
human body. Originally, the project was organized to last 15 years but due to rapid
technological advancements, it was completed in spring 2003 thus coinciding with
the 50th anniversary of Watson and Crick's model of the basic structure of DNA.
It is believed that the mapping of human genes has marked the beginning of
the ‘biology century’, during which the fields of medicine and health care are going
to flourish immensely.
History
The Human Genome Project was a 15-year-long, publicly funded project
initiated in 1990 with the objective of determining the DNA sequence of the entire
euchromatic human genome within 15 years In May 1985, Robert Sinsheimer
organized a workshop to discuss sequencing the human genome, but for a number
of reasons the NIH was uninterested in pursuing the proposal.
This started a long and complex chain of events which led to approved
reprogramming of funds that enabled the OHER to launch the Project in 1986, and
to recommend the first line item for the HGP, which was in President Reagan's 1988
budget submission and ultimately approved by the Congress.
Objectives:
Human Genome Project had the following objectives:
1. To identify all the approximately 20,000-25,000 genes in human DNA
2. To determine the sequences of the 3 billion chemical base pairs that make
up human DNA
3. To store this information in databases
4. To improve tools for data analysis
5. To transfer related technologies to the private sector
6. To address the ethical, legal, and social issues (ELSI) that may arise from the
project.
Impact:
The Human Genome Project played a vital role in establishing U.S. as the global
leader in the new biotechnology sector by stirring advancement in biotechnology
innovation worldwide. The significance of HGP can be highlighted through the
following points:
1. It has aided the discovery of more than 1,800 disease genes.
2. It enabled researchers to find a gene suspected of causing an inherited
disease quickly.
3. It paved the way for more than 1,000 genetic tests for various human
diseases/conditions.
4. It resulted in developing 350 biotechnology-based products.
5. It laid foundation for the development of the HapMap in 2005 which is a
catalog of common genetic variation or haplotypes in the human genome.
6. It is worth mentioning that the mankind will continue to reap the benefits of
the Human Genome Project for long period of coming time.
State of completion:
The project was not able to sequence all the DNA found in human cells. It
sequenced only euchromatic regions of the genome, which make up 92% of the
human genome. The other regions, called heterochromatic, are found in
centromeres and telomeres, and were not sequenced under the project.
The Human Genome Project (HGP) was declared complete in April 2003. An
initial rough draft of the human genome was available in June 2000 and by February
2001 a working draft had been completed and published followed by the final
sequencing mapping of the human genome on April 14, 2003. Although this was
reported to cover 99% of the euchromatic human genome with 99.99% accuracy,
a major quality assessment of the human genome sequence was published on May
27, 2004 indicating over 92% of sampling exceeded 99.99% accuracy which was
within the intended goal. Further analyses and papers on the HGP continue to
occur.
The sequencing of the human genome holds benefits for many fields, from
molecular medicine to human evolution. The Human Genome Project, through its
sequencing of the DNA, can help us understand diseases including: genotyping of
specific viruses to direct appropriate treatment; identification of mutations linked
to different forms of cancer; the design of medication and more accurate prediction
of their effects; advancement in forensic applied sciences; biofuels and other
energy applications; agriculture, animal husbandry, bioprocessing; risk assessment;
bioarcheology, anthropology and evolution. Another proposed benefit is the
commercial development of genomics research related to DNA based products, a
multibillion-dollar industry.
Computer programs have been developed to analyze the data, because the
data itself is difficult to interpret without such programs. Generally speaking,
advances in genome sequencing technology have followed Moore's Law, a concept
from computer science which states that integrated circuits can increase in
complexity at an exponential rate. This means that the speeds at which whole
genomes can be sequenced can increase at a similar rate, as was seen during the
development of the above-mentioned Human Genome Project..
Some of the important techniques used in the human genome project are
as follow:
(а) DNA Sequencing are the sequencing methods for determining the order
of the nucleotide bases—adenine, guanine, cytosine, and thymine—in a molecule
of DNA. There are two common methods namely Maxam Gilbert technique which
uses chemicals to cleave DNA into fragments at specific bases; or, most commonly,
the Sanger technique.
HGP scientists used white blood cells from the blood of two male and two
female donors (randomly selected from 20 of each) – each donor yielding a
separate DNA library. One of these libraries (RP11) was used considerably more
than others, due to quality considerations. One minor technical issue is that male
samples contain just over half as much DNA from the sex chromosomes (one X
chromosome and one Y chromosome) compared to female samples (which contain
two X chromosomes). The other 22 chromosomes (the autosomes) are the same
for both sexes.
Although the main sequencing phase of the HGP has been completed,
studies of DNA variation continued in the International HapMap Project, whose
goal was to identify patterns of single-nucleotide polymorphism (SNP) groups
(called haplotypes, or “haps”). The DNA samples for the HapMap came from a total
of 270 individuals: Yoruba people in Ibadan, Nigeria; Japanese people in Tokyo; Han
Chinese in Beijing; and the French Centre d’Etude du Polymorphisme Humain
(CEPH) resource, which consisted of residents of the United States having ancestry
from Western and Northern Europe.
In the Celera Genomics private-sector project, DNA from five different
individuals were used for sequencing. The lead scientist of Celera Genomics at that
time, Craig Venter, later acknowledged (in a public letter to the journal Science)
that his DNA was one of 21 samples in the pool, five of which were selected for use.
In 2007, a team led by Jonathan Rothberg published James Watson's entire
genome, unveiling the six-billion-nucleotide genome of a single individual for the
first time.
In 1996 the United States passed the Health Insurance Portability and
Accountability Act (HIPAA) which protects against the unauthorized and non-
consensual release of individually identifiable health information to any entity not
actively engaged in the provision of healthcare services to a patient.[59] Other
nations passed no such protections.
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