Running head: HELPING THE WORLD THROUGH GENETICS
Helping the World through Modern Genetic Technology
Andru Smith
Bayside High School
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Abstract
In this paper, an explanation how molecular medicine is being used to help many people with
different genetic diseases will be clarified. To start off, the history of molecular medicine and
genetics, such as how they discovered molecular medicine (what they were doing to have
discovered molecular medicine) will be presented in this paper. Certain medical diseases,
including cancer, color blindness, sickle cell anemia, and more (which will be explained in more
detail in the paper) (Genetic Diseases and Disorders 2012), were witnessed by these discoverers
of genetic diseases which ultimately led to the practice of molecular and genetic medicine.
However, to fully understand these diseases, these scientists needed to understand what these
diseases specifically affected, which were the persons genes, hence “genetic medicine”. During
their research, scientists also came up with specific statistics on which certain genetic diseases
were more common in specific peoples (race and gender) (How Genetic Mutations Affect Health
and Development 2012). Also, explanation of how hereditary specialists diagnose these disorders
and diseases will become apparent. Finally, molecular and genetic specialist’s work on the
improvement of hereditary medicine to patients suffering from genetic disease shall be revealed.
To briefly explain their intentions, they are trying to create and make better medicine that is
specific for each person, because each person’s genes are unique and are affected in different
ways by different factors.
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Helping the World through Modern Genetic Technology
Genetic disorders, they hurt people in many ways not allowing them to live normal lives as the
rest of us. However, with the introduction of molecular medicine, doctors and scientists have
hope of helping those people get their lives to be as normal as patients without a disease.
Discussions of questions such as: what molecular medicine actually is and the history behind this
science, specific molecular and genetic diseases including sickle-cell anemia, and the specific
history behind sickle-cell as well as its causes will become clear in the paper. This paper will
also discuss the structure of genes and how it will pertain to genetic disorders and how these
genetic disorders occur within the genes. In addition, clarification of how the genes can affect a
person’s health, including trends that people have with certain diseases, will be present. In
conclusion, this paper will state what genetic specialists are doing to further excel and progress
in their studies and what methods they use to get the best possible results for a specific person.
Molecular medicine is an important study that can save many lives in many ways by identifying
specific causes of diseases and how to treat them.
What is Molecular Medicine
Molecular medicine is the study of any genetic diseases at the cellular and molecular level. These
diseases that are can be anything from asthma to obesity and affect people of all types. These
scientists specifically investigate the areas of what causes a certain genetic disease in a person,
potential treatment for that patient, therapy (which can be considered a potential treatment or
support to the family that is going through the disease), and different ways of preventing the
diseases affects on the patient(D.J. Weatherall 2010).
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To add on, genetic specialists are conducting tests so that these diseases can be treated in the
best possible way, specific to the patient’s needs (D.J. Weatherall 2010).
Genetics and Radiation
Molecular medicine deals with any of the various genetic diseases that a person may be affected
by. These diseases not only occur in an organism through inheritance, but the genetic and
molecular health of a person can also be affected by outside factors. One of the factors that can
affect gene health is radiation. Radiation can be classified as small particles of high-powered
energy. These high-powered energy particles affect your DNA by damaging it (Denofrio 2012).
DNA consists of all of the genetic information that the body needs to function properly. These
genetic holding strands of genes consists of nucleic acids that form together to make nucleotides.
When the nucleotides link together end to end, they form long molecules made of sugars,
phosphates, and bases (Encyclopedia of Genetics pg. 406-407). The genes within the DNA hold
the genetic information for your phenotype. Radiation can damage these genes causing them to
be severely damaged to the point where they cease to function. Along with the dysfunctional
genes come the genetic disorders. Luckily in most cases, the cells do their jobs to repair the
damaged areas. Therefore, it takes high amounts of radiation to do permanent damage (Denofrio
2012). However, in the high radiation situations, the damage can cause diseases such as cancer
(excessive cell production). The specific way radiation may cause cancer is by changing the
structure of the bases in genes. These bases are adenine, cytosine, thymine, and guanine. For
example, the radiation can manipulate a thymine base to look like a guanine base. Because
guanine can only pair with cytosine and adenine can only pair with thymine, this change could
cause a drastic change in a person’s genetic makeup (Denofrio 2012). Cells divide constantly
bringing their genetic information to each of its duplicated cells in a constant cycle. This explains
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why one small change to a base can cause a system malfunction in the body which results in
various diseases such as cancer (Denofrio 2012).
Genetics and Inheritance
As stated before, genetic diseases can occur in two ways, inheritance and outside factors. Genetic
diseases that are passed though inheritance can occur in anyone. However, people with past
family history of a specific disorder have a greater chance of inheriting the disease than people
that have no past history. These diseases include cancer, color blindness, cystic fibrosis,
hemophilia, muscular dystrophy, and sickle cell anemia (Genetic Diseases and Disorders 2012).
There are many more genetically inherited diseases, but these are just some of the commonly
heard ones. Cancer, again, is a cellular disease that causes an overproduction of cells to a certain
area in the body. Color blindness (which is a genetically inherited disease that causes people to
see certain colors differently than what they actually are. Also, in some rare cases, people may be
completely blind to all colors, only being able to see in black and white) (Genetic Diseases and
Disorders 2012), cystic fibrosis (an inherited disease that cause thick and sticky mucus to build
up in a mucus present area cause damage to organs [Cystic Fibrosis 2013]), hemophilia (a
disease causing a slowing of blood clotting to certain areas, resulting in prolonged periods of
bleeding to an injured area), muscular dystrophy (grouping of genetic diseases resulting in the
decay and degeneration of skeletal muscles[Muscular Dystrophy 2013]), and sickle cell anemia
(which is a genetically inherited ailment that causes the red blood cells, that carry oxygen around
the body, to become thinner and form into a “sickle”, or crescent, shape which in turn allows less
oxygen to be carried around the body causing shortness of breath and becoming easily tired due
to the smaller amount of oxygen). As stated previously, all of these diseases are genetically
inherited and can be inherited by anyone. However, a person’s ethnic background can also be a
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factor in gaining a hereditary disease because some ethnic groups are more likely to attain a
certain disease or disorder more likely than another group (How Genetic Mutations Affect
Health and Development 2012).
Genetic Inheritance and Ethnicity
In the case of racial and ethnic upbringing, some molecular diseases are more common to occur
in one group than another. People that belong to a certain ethnic group may carry the same or
similar versions of the same gene. As that gene is passed down the generations, if it carries a
disorder or disease, it could affect the later generations consisting of the same group that
originally had the disease (How Genetic Mutations Affect Health and Development 2012). For
example, sickle cell anemia has been found to be more common in people descending from
African or Mediterranean descent. To add on, Tay-Sachs disease (disease causing progressive
deterioration of nerve cells in the brain and spinal cord) is more commonly linked to eastern and
central Europeans and their offspring (--- 2012). For Africans and Mediterranean natives, the
gene responsible for causing sickle cell anemia is more common in their DNA strands then that
of other races. As for eastern and central Europeans, they tend to more commonly carry the gene
that causes Tay-Sachs than most other ethnicities. Even though the genes carrying the
instructions to produce a certain genetic mutation may be more common in certain ethnicities
and races, they can occur in anyone (As I have proclaimed many times in this paper) (--- 2012).
Diagnoses of Genetic Diseases
Genetic specialists can diagnose a specific hereditary disorder or disease in four ways: physical
examination, personal health history, family health history, and laboratory tests (How are
Genetic Conditions Diagnosed 2013). Each of these test are used by the specialists to conjure up
a final diagnosis, or what disease or disorder they suspect you of having. Physical diagnoses
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include the examination of certain facial features that characterize a disorder such as head
circumference, eye distance, and limb length. Certain exams may be used as well to better
determine what the patient might have. For instance, neurological and eye exams may be used to
test the efficiency of those systems or areas (How are Genetic Conditions Diagnosed 2013). The
patient’s personal health history is also important in finding out what may have led to the
disease. Doctors will usually start with birth and continue up the ladder of history the patient has,
whether it is surgeries, allergies, past medications, and past or current health issues (How are
Genetic Conditions Diagnosed 2013). Family history of disease is important because many
genetic conditions run in families, so it is important to know if the patient’s family has any
history of hereditary disease because it may provide helpful information into the diagnosis of a
disease (How are Genetic Conditions Diagnosed 2013). Finally, laboratory tests can be used as a
good resource to achieve a very accurate record of the contents of the patient’s body to provide
the specialists with a helpful clue in the diagnosis of the disease or disorder. These test include
molecular, chromosomal, and biochemical genetic testing (How are Genetic Conditions
Diagnosed 2013).
Current Work in Genetics
The current work being done in genetics is very fascinating. Every person’s DNA is different,
therefore their genome is different. Current genetic and hereditary scientists are entertaining the
thought of creating molecular medicine that is specific to a patient’s specific genotype. The study
of pharmacogenomics, which is the study of how an individual’s genes are affected and how they
respond to drugs, gives hope to the scientific world, which later in the future, drugs can be
specially designed for an individual (Pharmacogenomics 2011). The hope is that it will adapt to
the persons genome that will treat, or maybe later on even cure, genetically inherited diseases.
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The benefit in pharmacogenomics is the creation of medicines that are more effective, more
accurate, less dangerous, and many others. The field of pharmacogenomics is a great starter on
the road to finding cures for currently incurable diseases (Pharmacogenomics 2011).
Conclusion
To sum up, all of the advances in molecular medicine have led to the future in the hope to help
treat and eventually cure many of the now incurable genetic diseases and disorders. With the
help of pharmacogenomics, hereditary and genetic specialists and doctors have a better grasp of
what is needed to help the immense number of people affected by these types of ailments. This
can lead to better overall health of the planet’s population and less worry over what people
inherit genetically.
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References
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