HUMA

001

The Genome Project

DR. MAGD KAHIL

OMAR ALAA ELDEIN SOLIMAN 1610480
MINA HELMY KAMAL 202000429
RANEEM MOSTAFA 211001885
ABDELRAHMAN BADR 211000791
MARWAN MOUSTAFA. 211000023

HUMA 001
 Table of content
Chapter Page

Introduction 1

The relationship between evolution theories and 2

genome project

. The prospects of being aware of the human 4-5

genome.

The pros. and cons of playing with cloning issues 5-6

from genetic perspectives.

Conclusion 7

Reference 8

1
 Introduction
International scientists are working on a long-term initiative to create precise genetic and
physical maps of the human genome. Researchers are working on locating and identifying all of
the genome's genes, as well as determining the sequence of the genes and other genome
components. This colossal undertaking has the potential to transform our understanding of
human evolution and diversity, as well as, perhaps most crucially, human illness. International
scientists are working on a long-term initiative to create precise genetic and physical maps of the
human genome. Researchers are working on locating and identifying all of the genome's genes,
as well as determining the sequence of the genes and other genome components. This colossal
undertaking has the potential to transform our understanding of human evolution and diversity,
as well as, perhaps most crucially, human illness. The Human Genome Project's achievement has
the potential to cause social issues. Some hereditary abnormalities will be apparent long before
they are treated. Reproductive concerns may also cause controversy. People may contemplate
terminating births due to genetic composition or social pressure to limit reproductive rights or
genetic grounds, for example. In the insurance sector and in the workplace, issues of genetic
discrimination and secrecy must be addressed. In 1988, the National Institutes of Health and the
Department of Energy formed a group to draught a Human Genome Project action plan. In 1990,
Congress approved a five-year collaborative research plan, and the Human Genome Project
began in October of that year. The DOE and the NIH were the primary organizers and funders of
the project, which formed working groups to address genome mapping, computational analysis
for database management, and the social, legal, and ethical issues of human genome research.
The project is funded by Congress through the National Institutes of Health's National Center for
Human Genome Research, which offers grants and contracts to American researchers. The DOE,
which conducts human genetics research at three national facilities and finances independent or
private investigators, receives additional financing from Congress. The Human Genome
Organization (HUGO) was founded in 1988 to aid worldwide scientific collaboration. The
United Nations Educational, Scientific, and Cultural Organization facilitates and promotes the
inclusion of developing countries in international genome research. Canada, France, Japan, Italy,
and the United Kingdom now have genome research programmers, and the United Nations
Educational, Scientific, and Cultural Organization facilitates and promotes the inclusion of
developing countries in international genome research. The Human Genome Project's real
overlay is massive. The mapping and sequencing project was originally predicted to take 15
years and cost $3 billion to finish in 2005. Recent reports, on the other hand, claim that
development has been faster than projected. Many years will be required after mapping and
sequencing to fully identify all genes and define the format of gene expression(The Human
Genome Project, 2022).

The Human Genome Project (HGP) was created with the goal of sequencing the human genome
but excludes genetic diversity research. Now that genetic variety is a hot topic, evolutionary
theory can help with analysis. Complex qualities are the focus of one form of diversity research.

2
Genetic variation at putative loci functionally relevant to a characteristic is routinely screened,
followed by gene/phenotype association testing. When combined with a recombination analysis,
linkage disequilibrium makes association tests difficult, but evolutionary analyses using
haplotype trees can overcome these issues, resulting in increased statistical power, better disease
risk prediction, the elimination of some polymorphisms as causative, and physical localization of
causative variation. In addition, the HGP now recommends mapping over 100,000 single
nucleotide polymorphisms to test for gene/phenotype associations.

The evolutionary forces that have shaped our species are recorded in our DNA. Advances in
DNA sequencing, functional genomics, and population genetic modelling have enriched our
knowledge of human demographic history, natural selection, and a variety of other long-studied
topics.

It's crucial to think about the factors that contribute to variation in populations and species while
thinking about genome evolution. The introduction of a mutation into the genome as a result of a
replication error or DNA damage is the initial step in the process. The effect of a mutation in a
protein-coding region on the gene's polypeptide product can be used to define it. A synonymous
mutation is a form of silent mutation that involves a substitution that does not modify the amino
acid sequence of the polypeptide product. A nonsynonymous mutation occurs when the amino
acid sequence of the polypeptide product is altered, resulting in a missense or nonsense codon.

The relationship between evaluation theories and the genome project is depicted in this image.

The process by which a genome's structure (sequence) or size changes over time is known as
genome evolution. The study of genome evolution encompasses a variety of disciplines,
including genome structure analysis, genomic parasite research, gene and ancient genome
duplications, polyploidy, and comparative genomics.

The mapping of the human genome has opened up the potential to yield amazing possibilities for health,
the environment and numerous industries – and also for the creation of synthetic life. However, some
have ethical concerns, and recent discussions in the US have now placed this provocative issue in the
spotlight.

Bacteria to seek and destroy

Synthetic biology has emerged from rapid progress in our understanding of genomics, being the synthesis
or redesign (engineering) of biological systems – typically bacteria as they are small and easy to grow. It

3
has a wide range of applications, such as using specially designed bacteria to create biofuels or to clear up
environmental contaminants.
In health terms, possible future uses include designing bacteria to selectively invade and kill cancer cells,
or protect the body against dangerous infections. Synthetic cells can already be used as an efficient way to
produce antibiotics, including badly-needed new forms of antibiotics, and other medicines.

Creating genomes – from scratch

The American J. Craig Venter Institute (JCVI) has been pursuing synthetic biology with enthusiasm;
Craig Venter is famous for leading the private commercial project to sequence the first full human
genome that ran in parallel with the public Human Genome Project. The first entirely synthetic bacterial
cell (as opposed to altered versions of naturally occurring bacteria) was produced in 2010.
Earlier this year, the JCVI announced that they had produced the first ‘minimal’ synthetic bacterial
genome with the absolute minimum number of genes needed for life – 473, although the functions of 149
of these genes remain undetermined. The artificial bacteria were not exactly created from scratch;
artificial genomes were inserted into the ‘shell’ or outside of existing bacteria, but the resulting artificial
bacteria were able to grow and reproduce themselves.

The first synthetic genome was hailed as a scientific landmark, but it also provoked concern and debate,
since it was effectively the creation of a new living lifeform (if only a very small one). Was this playing
God? Could the same techniques be used to create dangerous infectious biological weapons? To the
researchers, it was an important step towards the minimal genome bacterium achieved this year, but now
it seems that it may also have been a further step towards the creation of a synthetic human genome.

Moving beyond bacteria

4
This month, a group of scientists met with government representatives, legal experts and others
at Harvard in the US to discuss topics in synthetic biology – including prospects for an
international project to create an artificial human genome as the next chapter in our
understanding of the blueprint of life. What they dubbed the Human Genome Project 2.0 was
intended to be achievable within ten years. The meeting was intended to be secret, to prevent a press
furore over the subject matter – but as news leaked out, the secrecy has become part of the story.

However, even aside from stinging criticism from ethicists and others about the advisability of such a
plan, the technical barriers would be significant. Despite the potential of new and much easier techniques
for gene editing, the human genome is vast and infinitely more complicated in structure and function
compared with that of bacteria, even though both are made from the same basic DNA.
When asked in 2013 whether synthetic biologists would ever contemplate radical alteration of other
lifeforms, perhaps even humans, Venter himself said: “As we move from relatively simple bacteria to
ones with larger genomes, the complexity goes up enormously. So I don’t think anybody is going to make
synthetic humans any time soon.”

Since the first successful execution of the process in 1996, cloning has become a useful technique in the
field of biotechnology. Through cloning, transgenic organisms having genes of interest inserted in their
.genome) plants and animals are used to make clones from adults

This paragraph we are going to talk about the pros of cloning. The first thing is it can help prevent the
extinction of species. As many organisms in the planet approach endangerment and extinction, cloning
appears to be a possible solution to restore populations. By utilizing the genetic material of already dead
organisms, cloning can even contribute to expanding the diversity of gene pools. Furthermore, the second
thing it can help increase food production. Another major advantage of cloning is that it can serve as a
means to increase agricultural production, particularly livestock and fresh produce. By manipulating their
biological processes, existing traits of interest are ensured with the absence of the genetic “lottery” and
random arrangements in the genes during meiosis. So, during cloning the gene of interst, as well as the
organism bearing that gene of interest, is replicated faster than those undergoing the natural process.
Because of this. The number of organisms produced ata given time also increase. The third thing it can
help couples who want to have children. Last but not the least is the use of cloning as a means to produce
children for infertile and same-sex couples. Normally, couples would want to have children that are
biologically theirs. Interestingly, the genetic manipulations to be done could now be targeted at giving the
children the genetic traits of both of their parents. Childern can now be produced even without donor
eggs or donor sperms. Same sex couples would only need a surrogate parent to carry the clone until its
birth. Scientists who support this method believe that it would become justifable for these couples to
.reproduce in this method, assuming the procedures could be done safely

However, there are cons of cloning. the process of cloning promises considerable advantages for research
and industries, the endpoint is not always certain because of high risks of losses and morbidity of
organisms during their development. Aside from that, the mere process of cloning remains to be
.elucidated. The following are some of its most common cons

The first thing is the process is not entirely safe and accurate. Despite being genetically identical to each
other, clones will not be the same in behavioural attributes. Aside from that, their similarities regarding

5
physical appearance are not guaranteed. It should be important to note that the genetic material is not the
sole determinant of these characteristics. The pair of clones will be subjected to different habitats and
have varying nutritional loads are very high, thus imprinting different changes and contributions to each
one. Second thing it is regarded as unethical, and the probability of abuse is very. One of the strongest
arguments against cloning is about its ethical concerns. Aside from the idea of manipulating living
organisms, critics say that the mere process of clone production requires the exploitation of life. In case of
dolly the sheep, more than 277 attempts were conducted before a viable clone was produced. This only
suggests that if humans were to be cloned, scientists need to conduct numerous failed attempts. With
that , critics highly believe that it would be unethical to clone humans unless these problems become
known and be resolved at a level of certainty. Moreover, third thing is the offspring lack genetic
uniqueness. Majority of the concerns against cloning are based on the absence of unique nuclear DNA in
the child’s genome. However, as mentioned above, the notion that cloning would only result in the
absence of genetic uniqueness would no longer be justifiable, assuming that the procedures are conducted
safely. The last one it is not yet fully developed. To date, many scientists will agree that the process of
cloning is not yet fully developed to be used as a way to promote the conservation of species. In fact,
some researchers do not even acknowledge cloning as it fails to recognize the main drivers of extinction
in the first place: the destruction of habitats and hunting. Critics also argue that even if cloning could help
in desperate times, present techniques to execute these goals are deemed to be ineffective to make a
difference. Overall, the developments of scientific research seem to go faster than the actual and real
needs of humans, who are the ultimate recipients of such progress. Because of that, there is a pressing
need to determine whether such practical applications are timely or are indeed necessary for human
.survival(BioExplorer.net, 2022 )

Conclusion
6
The success of the Human Genome Project has the potential to bring social problems. Long
before they are addressed, certain inherited defects will become obvious. Concerns about
reproduction may also spark debate. Genetic discrimination and concealment must be addressed
in the insurance industry and the workplace. The National Institutes of Health and the
Department of Energy organized a committee in 1988 to develop a Human Genome Project
action plan. A five-year joint research plan was approved by Congress in 1990. The National
Center for Human Genome Research at the National Institutes of Health is funding the initiative.
In 1988, the Human Genome Organization (HUGO) was established to facilitate international
scientific collaboration. Genome research programmers are currently available in Canada,
France, Japan, Italy, and the United Kingdom. The mapping and sequencing project was
expected to take 15 years and cost $3 billion when it was first announced. According to recent
reports, progress has been faster than expected. The Human Genome Project (HGP) was
established with the purpose of sequencing the human genome; however it does not include
studies on genetic variation. Gene/phenotype association testing is usually performed when
genetic variation at candidate loci is evaluated. Our understanding of human demographic
history has been expanded by advances in DNA sequencing, functional genomics, and
population genetic modelling. The mapping of the human genome has opened up incredible
possibilities in terms of health, the environment, and a variety of businesses — as well as the
development of synthetic life. However, some people have ethical issues, and current talks in the
United States have brought this contentious subject to the forefront.

The synthesis or redesign (engineering) of biological systems – often bacteria since they are tiny
and easy to cultivate – is known as synthetic biology. It has a wide variety of uses, including the
production of biofuels and the removal of environmental toxins using specially developed
bacteria.

The J. Craig Venter Institute (JCVI) in the United States has created the first ‘minimal' synthetic
bacterial genome, with the absolute minimum amount of genes required for life - 473, however
the functions of 149 of these genes are unknown. The first synthetic genome was heralded as a
breakthrough in science, but it also sparked controversy.

Over 10 years, the Human Genome Project 2.0 was supposed to be completed. Despite the
prospect of new and far easier gene editing techniques, the human genome's structure and
function are vastly more intricate. The secrecy surrounding the encounter has become a part of
the narrative. Cloning has been a helpful technique in the field of biotechnology since the first
successful execution of the procedure in 1996. Cloning is the process of creating organisms with
specific genes put into their genomes. Cloning can help save species from extinction and boost
agricultural productivity. Cloning might potentially be utilized to help infertile and same-sex
couples have children. Even without donor eggs or sperm, children can now be born. Only a
surrogate parent would be required for same-sex couples to carry the clone until it was born.
Cloning an organism is a procedure that offers significant benefits to both research and industry.
However, there are drawbacks to the procedure, such as the increased chance of organism loss

7
and morbidity throughout development. Some of the most well-known as well as lesser-known
disadvantages of cloning are listed below. Cloning is considered unethical, because there is a
high risk of misuse. One of the most compelling arguments against cloning is its ethical
implications. Critics argue that the sheer act of cloning necessitates the abuse of human life.
More than 277 attempts were made to clone Dolly the sheep before a viable clone was
developed. There is a pressing need to establish if such science and technology applications are
timely or even vital for human existence. Overall, scientific advancement appears to be
outpacing the genuine and true requirements of humans, who are the ultimate beneficiaries of
such progress.

Reference
BioExplorer.net. (2022, June 01). Top 7 Pros and Cons of Cloning. Bio

Explorer. https://www.bioexplorer.net/pros-and-cons-of-cloning.html/.

Gregory, T. R. (Ed.). (2011). The evolution of the genome. Elsevier.

The Human Genome Project. (n.d.). Retrieved May 29, 2022, from

https://www.ndsu.edu/pubweb/~mcclean/plsc431/students99/
leno.htm#:~:text=Introduction,other%20components%20of%20the%20genome.