Boris Krivovyaz

Judyta Juranek

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A and P   II                    The
Human Genome Project

 

The Human Genome Project
– also known as HGP, was an international effort to discover the exact
makeup of the genetic material that controls the way human beings develop and grow.
The project involved scientists from around the world, who worked together to
achieve their aims. The project began in 1990 .The Human Genome Project (HGP)
was one of the great accomplishments of exploration in history – an inward
journey of discovery rather than an outward exploration of the planet or the
cosmos; an international research effort to group and map all the genes –
together known as the genome – of members of our species, Homo sapiens.
Concluded in April 2003, the HGP gave us the capability, for the first time, to
read nature’s complete genetic blueprint for constructing a human being.

The
HGP has declared that there are possibly about 20,500 human genes. The
completed human sequence can now identify their locations. This ultimate product
of the HGP has given the world a resource of detailed information about the
structure, organization and function of the complete set of human genes. This
information can be thought of as the primitive set of inheritable
“instructions” for the evolution and behavior of a human being. The
International Human Genome Sequencing Consortium issued he first draft of the
human genome in the journal Nature in February 2001, with the sequence of the
entire genome’s three billion base pairs some 90 percent complete. A startling
finding of this first draft was that the number of human genes appeared to be extremely
fewer than previous estimates, which ranged from 50,000 genes to as many as
140,000. The full sequence was completed and issued in April 2003.  Francis Collins, the director of NHGRI,who
issued the majority of the genome in 2001,  noted that the genome could be thought of in
terms of a book with multiple uses, he states that “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 a
transformative textbook of medicine, with insights that will give health care
providers immense new powers to treat, prevent and cure disease.” The
means created through the HGP also move forward to inform efforts to constitute
the entire genomes of several other organisms used extensively in biological
research, such as mice, fruit flies and flatworms. These efforts support each
other, because most organisms have many similar, or “homologous,”
genes with similar functions. Thus, the identification of the sequence or
function of a gene in a model organism, for example, the roundworm C. elegans,
has the potential to explain a homologous gene in human beings, or in one of
the other model organisms. These determined objectives will continue to impose a
variety of new technologies that have made it possible to relatively increase construction
of the first draft of the human genome and to continue to refine that draft.    Therefore, advanced methods for widely
disseminating the information generated by the HGP to scientists, physicians
and others, is necessary to ensure the most rapid application of research
results for the benefit of humanity. Biomedical technology and research are recipients
of the HGP. However, the momentous implications for individuals and society for
possessing the detailed genetic information made possible by the HGP were
recognized from the outset. Another major component of the HGP – and an ongoing
component of NHGRI – is therefore devoted to the analysis of the ethical, legal
and social implications (ELSI) of our newfound genetic knowledge, and the
subsequent development of policy options for public consideration.

Background

The
Human Genome Project (HGP), which functioned from 1990 to 2003, provided
researchers with basic information about the sequences of the three billion
chemical base pairs (i.e., adenine [A], thymine, guanine, and cytosine that
make up human genomic DNA (deoxyribonucleic acid). The Human Genome Project was
further intended to improve the technologies needed to interpret and analyze
genomic sequences, to identify all the genes encoded in human DNA, and to
address the ethical, legal, and social implications that might arise from
defining the entire human genomic sequence.

Prior
to the Human Genome Project, the base sequences of numerous human genes had
been determined through contributions made by many individual scientists.
However, the clear majority of the human genome remained uncharted, and
researchers, having recognized the requirement and value of having at hand the
basic information of the human genomic sequence, were beginning to search for
ways to uncover this information more quickly. Because the Human Genome Project
required billions of dollars that would inevitably be taken away from
traditional biomedical research, many scientists, politicians, and ethicists
became involved in vigorous debates over the merits, risks, and comparative
costs of sequencing the entire human genome in one concerted undertaking.
Despite the debate, the Human Genome Project was introduced in 1990 under the
leadership of American geneticist Francis Collins, with funding from the U.S.
Department of Energy and the National Institutes of Health (NIH). The effort
was soon united by scientists from around the world. Moreover, a sequence of
technical developments in the sequencing process itself and in the computer
hardware and software used to track and analyze the resulting data permitted fast
growth of the project.

Animated
structure of a DNA molecule, showing the deoxyribose sugar molecules (green)
and phosphate molecules (yellow crosses) that form the rudimentary external agenda
of the DNA double helix. Sets of nitrogenous bases (adenine bound to thymine
and guanine bound to cytosine), which form bonds that look like the steps of a
ladder, join the external elements of the DNA molecule.

Technological
advance, though, was only one of the services driving the pace of discovery of
the Human Genome Project. In 1998 a remote-subdivision enterprise, Celera
Genomics, regulated by American biochemist and former NIH scientist J. Craig
Venter, started to contend with and possibly challenge the openly sponsored
Human Genome Project. At the core of the rivalry was the outlook of acquisition
of control over possible copyrights on the genome sequence, which was measured
a pharmacological gem . Although the lawful and fiscal details remain uncertain,
the competition between Celera and the NIH finished when they joined forces, therefore
moving conclusion of the rough draft sequence of the human genome. The
conclusion of the rough draft was declared in June 2000 by Collins and Venter.
For the following three years, the rough draft sequence was polished, prolonged,
and further examined, and in April 2003, coinciding with the 50th anniversary
of the publication that described the double-helical structure of DNA, written
by British biophysicist Francis Crick and American geneticist and biophysicist
James D. Watson, the Human Genome Project was declared complete.

The Science

To
appreciate the greatness, encounter, and suggestions of the Human Genome
Project, it is significant initially to reflect the basis of science upon which
it was founded—the fields of standard, molecular, and human genetics. Standard
genetics is considered to have begun in the mid-1800s with the work of Austrian
botanist, teacher, and Augustinian prelate Gregor Mendel, who demarcated the
basic laws of genetics in his studies of the garden pea (Pisum sativum). Mendel
prospered in explaining that, for any given gene, offspring get from each
parent one form, or allele, of a gene. In addition, the allele that an
offspring gets from a parent for one gene is self-regulating of the allele
inherited from that parent for another gene.

 Mendel’s basic laws of genetics were prolonged
upon in the early 20th century when molecular geneticists began directing
research using model organisms such as Drosophila melanogaster (also called the
vinegar fly or fruit fly) that provided a more inclusive assessment of the
complexities of genetic transmission. For example, molecular genetics studies verified
that two alleles can be codominant (characteristics of both alleles of a gene
are expressed) and that not all traits are defined by single genes; in fact,
many traits reflect the joint influences of numerous genes. The field of
molecular genetics arose from the understanding that DNA and RNA (ribonucleic
acid) create the genetic material in all living things. In physical terms, a
gene is a distinct stretch of nucleotides within a DNA molecule, with each
nucleotide comprising of an A, G, T, or C base unit. It is the precise sequence
of these bases that encodes the information contained in the gene and that is
ultimately translated into a final product, a molecule of protein or in some
cases a molecule of RNA. The protein or RNA product may have a structural role
or a regulatory role, or it may help as an enzyme to promote the formation or
metabolism of other molecules, as well as carbohydrates and lipids. All these
molecules work in concert to preserve the processes required for life.

Molecular
genetics arose from the realization that DNA and RNA constitute the genetic
material of all living organisms. (1) DNA, located in the cell nucleus, is made
up of nucleotides that contain the bases adenine (A), thymine (T), guanine (G),
and cytosine (C). (2) RNA, which contains uracil (U) instead of thymine,
transports the genetic code to protein-synthesizing sites in the cell. (3)
Messenger RNA (mRNA) then carries the genetic information to ribosomes in the
cell cytoplasm that translate the genetic information into molecules of protein.

Studies
in molecular genetics led to studies in human genetics and the observation of
the ways in which traits in humans are inherited. For instance, most behaviors
in humans and other species result from a blend of genetic and environmental
influences. In accumulation, some genes, such as those programmed at neighboring
spots on a single chromosome, tend to be inherited together, rather than
independently, whereas other genes, namely those encoded on the mitochondrial
genome, are inherited only from the mother, and yet other genes, encoded on the
Y chromosome, are passed only from fathers to sons. By means of data from the
Human Genome Project, scientists have projected that the human genome contains
anywhere from 20,000 to 25,000 genes.

Developments
in genetics and genomics continue to arise. Two significant developments comprise
of the International HapMap Project and the beginning of large-scale
comparative genomics studies, both of which have been made possible by the accessibility
of records of genomic sequences of humans, as well as the accessibility of
records of genomic sequences of a multitude of other species.

The
International HapMap Project is a joint effort between Japan, the United
Kingdom, Canada, China, Nigeria, and the United States in which the goal is to recognize
and collect the genetic similarities and differences between people
representing four major human populations derived from the continents of
Africa, Europe, and Asia. The documentation of genetic variations called
polymorphisms that exist in DNA sequences among populations lets researchers define
haplotypes, indicators that distinguish specific regions of DNA in the human
genome. Association studies of the frequency of these haplotypes in control and
patient populaces can be used to help recognize possibly functional genetic
differences that influence an individual toward disease or, alternatively, that
may defend an individual from illness. Likewise, association studies of the
inheritance of these haplotypes in families affected by a recognized genetic
trait can also assist to locate the exact gene or genes that cause or alter
that trait. Association and linkage studies have permitted the identification
of frequent disease genes and their modifiers.

In distinction
to the International HapMap Project, which associates genomic sequences within
one species, comparative genomics is the study of similarities and differences
between different species. In recent years a overwhelming number of full or
almost full genome sequences from diverse species have been determined and dropped
in public databases such as NIH’s Entrez Genome database. By comparing these
sequences, often using a software device called BLAST (Basic Local Alignment
Search Tool), researchers are able to identify degrees of similarity and
divergence between the genes and genomes of related or disparate species. The
results of these studies have illuminated the evolution of species and of
genomes. Such studies have also helped to draw attention to highly conserved
regions of noncoding sequences of DNA that were originally thought to be
nonfunctional because they do not contain base sequences that are translated
into protein. However, some noncoding regions of DNA have been highly conserved
and may play key roles in human evolution.

The public
availability of a complete human genome sequence represented a defining moment
for both the biomedical community and for society. In the years since
completion of the Human Genome Project, the human genome database, together
with other publicly available resources such as the HapMap database, has permitted
the identification of a diversity of genes that are associated with disease.
This, in turn, has permitted more objective and accurate diagnoses, in some
cases even before the onset of overt clinical symptoms. Association and linkage
studies have identified additional genetic influences that modify the
development or outcome for both rare and common diseases. The recognition that human
genomes may influence everything from disease risk to physiological response to
medications has led to the emergence of the concept of personalized
medicine—the idea that knowledge of a patient’s entire genome sequence will
give health care providers the ability to deliver the most appropriate and
effective care for that patient. Indeed, continuing advances in DNA sequencing
technology promise to lower the cost of sequencing an individual’s entire
genome to that of other, relatively inexpensive, diagnostic tests.

The Human
Genome Project touches grounds past biomedical science in ways that are equally
tangible and profound. For example, human genomic sequence information, examined
through a system called CODIS (Combined DNA Index System), has transformed the
field of forensics, allowing optimistic identification of individuals from
extremely tiny samples of biological substances, such as saliva on the seal of
an envelope, a few hairs, or a spot of dehydrated blood or semen. Indeed, encouraged
by high rates of repetition (the tendency of a previously imprisoned criminal
to return to previous illegal conduct regardless of sentence or incarceration),
some governments have even introduced the rule of banking DNA samples from all
convicted criminals in order to shorten the identification of perpetrators of
future crimes. While politically controversial, this policy has proved highly
effective. By the same mark, guiltless men and women have been acquitted due to
on DNA evidence, sometimes decades after wrongful convictions for crimes they
did not commit.

Proportional
DNA sequence analyses of samples on behalf of distinct modern populations of
humans have transformed the field of anthropology. For example, by following
DNA sequence variations present on mitochondrial DNA, which is maternally
inherited, and on the Y chromosome, which is paternally inherited, molecular
anthropologists have confirmed Africa as the cradle of the modern human
species, Homo sapiens, and have identified the waves of human migration that emerged
from Africa over the last 60,000 years to inhabit the other continents of the
world. Databases that map DNA sequence variations that are common in some
populations but rare in others have enabled so-called molecular genealogists to
trace the continent or even subcontinent of origin of given families or
individuals. Perhaps more important than helping to trace the roots of humans
and to see the differences between populations of humans, DNA sequence
information has allowed recognition of how closely related one population of
humans is to another and how closely related humans are to the multitude of
other species that inhabit the Earth.

 

                                  4
Ways the Human Genome Project Changed Medicine

 

1)   
There
were Personalized treatments with fewer side effects

treatment by
trial-and-error was forgotten. In some cases, doctors can modify the medications
and doses by who you the person is , not just by what population they fit in
to. This is thanks to pharmacogenetics, which deals with how a person’s genes your
response to drugs. Pharmacogenetics can save people from hurtful side effects
and make the treatment faster and more effective. The field is still in its initial
stages with much to learn.

2)   
More
focus on personalized care

The
Human Genome Project covered all of our genes. But that big-picture approach
has paved the way for individual portraits of your health. For several types of
cancer and other conditions, doctors can predict your risk. Then they can help
you do something about it. Genetics is one of many tools for personalized care,
along with family history and others.

3)   
Better
studies, better science

The
Human Genome Project showed how much good a large-scale, multi-center approach
can do. Many studies today build on that model, including President Barack
Obama’s brain-mapping initiative, announced in early April 2013. It’s about
strength in numbers: More scientists working together can ask more questions
and get more answers by studying more patients.

 

4)   
Data
for smarter decisions

The
researchers in the Human Genome Project wanted to make data easier for doctors
to use. It was part of a push for better electronic medical records — to put
more information at your doctors’ fingertips and help them make smarter
decisions. The next step is to get all of these records to “talk” to each other
and become more universal.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

References:

http://www.who.int/medicines/ebola-treatment/background_briefing_on_data_results_sharing_during_phes.pdf?ua=1

https://report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=45

 

 

 

 

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