LESSON 10: GENE THERAPY VERSUS STEM CELL THERAPY

OBJECTIVES:
After this lesson, you should be able to:
1. define what a gene is;
2. differentiate gene therapy from stem cell therapy
3. explain the importance of gene therapy in the future;
4. demonstrate processes of gene therapy; and
5. discuss example of genetic disease.

TIME FRAME
May 2-6, 2022

LEARNING EXPERIENCES

I. ENGAGE
Genetic risks to health come from a variety of sources and predicting those risks can be much more
complicated than simply assisting disease inheritance patterns. The majority of health conditions are not related to a
single genetic cause but result from a combination of inherited and environmental influences. Our topic will
highlight risk factors and provide risk assessment tools, which can improve healthcare decision-making.

II. EXPLORE
A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act
as instructions to make molecules called proteins. However, many genes do not code for proteins. In humans, genes
vary in size from a few hundred DNA bases to more than 2 million bases. An international research effort called the
Human Genome Project, which worked to determine the sequence of the human genome and identify the genes that
it contains, estimated that humans have between 20,000 and 25,000 genes.
Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all
people, but a small number of genes (less than 1 percent of the total) are slightly different between people. Alleles
are forms of the same gene with small differences in their sequence of DNA bases. These small differences
contribute to each person’s unique physical features.
Scientists keep track of genes by giving them unique names. Because gene names can be long, genes are
also assigned symbols, which are short combinations of letters (and sometimes numbers) that represent an
abbreviated version of the gene name. For example, a gene on chromosome 7 that has been associated with cystic
fibrosis is called the cystic fibrosis transmembrane conductance regulator; its symbol is CFTR.

III. EXPLAIN
Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this
technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or
surgery. Researchers are testing several approaches to gene therapy, including:
• Replacing a mutated gene that causes disease with a healthy copy of the gene.
• Inactivating, or “knocking out,” a mutated gene that is functioning improperly.
• Introducing a new gene into the body to help fight a disease.
Although gene therapy is a promising treatment option for a number of diseases (including inherited disorders, some
types of cancer, and certain viral infections), the technique remains risky and is still under study to make sure that it
will be safe and effective. Gene therapy is currently being tested only for diseases that have no other cures.
Gene therapy can be used to modify cells inside or outside the body. When it’s done inside the body, a
doctor will inject the vector carrying the gene directly into the part of the body that has defective cells.
In gene therapy that is used to modify cells outside of the body, blood, bone marrow, or another tissue can
be taken from a patient, and specific types of cells can be separated out in the lab. The vector containing the desired
gene is introduced into these cells. The cells are left, to multiply in the laboratory, and are then injected back into the
patient, where they continue to multiply and eventually produce the desired effect.
How does gene Therapy Work?
Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes or to
make a beneficial protein. If a mutated gene causes a necessary protein to be faulty or missing, gene therapy may be
able to introduce a normal copy of the gene to restore the function of the protein.
A gene that is inserted directly into a cell usually does not function. Instead, a carrier called a vector is
genetically engineered to deliver the gene. Certain viruses are often used as vectors because they can deliver the new
gene by infecting the cell. The viruses are modified so they can't cause disease when used in people. Some types of
virus, such as retroviruses, integrate their genetic material (including the new gene) into a chromosome in the human
cell. Other viruses, such as adenoviruses, introduce their DNA into the nucleus of the cell, but the DNA is not
integrated into a chromosome.
The vector can be injected or given intravenously (by IV) directly into a specific tissue in the body, where
it is taken up by individual cells. Alternately, a sample of the patient's cells can be removed and exposed to the
vector in a laboratory setting. The cells containing the vector are then returned to the patient. If the treatment is
successful, the new gene delivered by the vector will make a functioning protein.
Researchers must overcome many technical challenges before gene therapy will be a practical approach to
treating disease. For example, scientists must find better ways to deliver genes and target them to particular cells.
They must also ensure that new genes are precisely controlled by the body.

What are stem cells?

Stem cells are the body's raw materials — cells from which all other cells with specialized functions are
generated. Under the right conditions in the body or a laboratory, stem cells divide to form more cells called
daughter cells.
These daughter cells either become new stem cells (self-renewal) or become specialized cells
(differentiation) with a more specific function, such as blood cells, brain cells, heart muscle cells or bone cells. No
other cell in the body has the natural ability to generate new cell types.

Why is there such an interest in stem cells?

Researchers and doctors hope stem cell studies can help to:
• Increase understanding of how diseases occur. By watching stem cells mature into cells in bones, heart
muscle, nerves, and other organs and tissue, researchers and doctors may better understand how diseases and
conditions develop.
• Generate healthy cells to replace diseased cells (regenerative medicine). Stem cells can be guided into
becoming specific cells that can be used to regenerate and repair diseased or damaged tissues in people.
People who might benefit from stem cell therapies include those with spinal cord injuries, type 1 diabetes,
Parkinson's disease, amyotrophic lateral sclerosis, Alzheimer's disease, heart disease, stroke, burns, cancer and
osteoarthritis.
Stem cells may have the potential to be grown to become new tissue for use in transplant and regenerative
medicine. Researchers continue to advance the knowledge on stem cells and their applications in transplant and
regenerative medicine.
• Test new drugs for safety and effectiveness. Before using investigational drugs in people, researchers can use
some types of stem cells to test the drugs for safety and quality. This type of testing will most likely first have a
direct impact on drug development first for cardiac toxicity testing.
New areas of study include the effectiveness of using human stem cells that have been programmed
into tissue-specific cells to test new drugs. For the testing of new drugs to be accurate, the cells must be
programmed to acquire properties of the type of cells targeted by the drug. Techniques to program cells into
specific cells continue to be studied.
For instance, nerve cells could be generated to test a new drug for a nerve disease. Tests could show
whether the new drug had any effect on the cells and whether the cells were harmed.

Where do stem cells come from?

Researchers have discovered several sources of stem cells:
• Embryonic stem cells. These stem cells come from embryos that are three to five days old. At this stage, an
embryo is called a blastocyst and has about 150 cells.
These are pluripotent (ploo-RIP-uh-tunt) stem cells, meaning they can divide into more stem cells or can
become any type of cell in the body. This versatility allows embryonic stem cells to be used to regenerate or
repair diseased tissue and organs.
• Adult stem cells. These stem cells are found in small numbers in most adult tissues, such as bone marrow or
fat. Compared with embryonic stem cells, adult stem cells have a more limited ability to give rise to various
cells of the body.
Until recently, researchers thought adult stem cells could create only similar types of cells. For
instance, researchers thought that stem cells residing in the bone marrow could give rise only to blood cells.
However, emerging evidence suggests that adult stem cells may be able to create various types of cells.
For instance, bone marrow stem cells may be able to create bone or heart muscle cells.
This research has led to early-stage clinical trials to test usefulness and safety in people. For example,
adult stem cells are currently being tested in people with neurological or heart disease.
• Adult cells altered to have properties of embryonic stem cells (induced pluripotent stem cells). Scientists
have successfully transformed regular adult cells into stem cells using genetic reprogramming. By altering the
genes in the adult cells, researchers can reprogram the cells to act similarly to embryonic stem cells.
This new technique may allow researchers to use reprogrammed cells instead of embryonic stem cells
and prevent immune system rejection of the new stem cells. However, scientists don't yet know whether using
altered adult cells will cause adverse effects in humans.
Researchers have been able to take regular connective tissue cells and reprogram them to become
functional heart cells. In studies, animals with heart failure that were injected with new heart cells experienced
improved heart function and survival time.
• Perinatal stem cells. Researchers have discovered stem cells in amniotic fluid as well as umbilical cord blood.
These stem cells also have the ability to change into specialized cells.
Amniotic fluid fills the sac that surrounds and protects a developing fetus in the uterus. Researchers
have identified stem cells in samples of amniotic fluid drawn from pregnant women to test for abnormalities —
a procedure called amniocentesis.
More study of amniotic fluid stem cells is needed to understand their potential.

Why is there a controversy about using embryonic stem cells?

Embryonic stem cells are obtained from early-stage embryos — a group of cells that forms when a
woman's egg is fertilized with a man's sperm in an in vitro fertilization clinic. Because human embryonic stem cells
are extracted from human embryos, several questions and issues have been raised about the ethics of embryonic
stem cell research.
The National Institutes of Health created guidelines for human stem cell research in 2009. The guidelines
define embryonic stem cells and how they may be used in research, and include recommendations for the donation
of embryonic stem cells. Also, the guidelines state embryonic stem cells from embryos created by in vitro
fertilization can be used only when the embryo is no longer needed.

Where do these embryos come from?

The embryos being used in embryonic stem cell research come from eggs that were fertilized at in vitro
fertilization clinics but never implanted in a woman's uterus. The stem cells are donated with informed consent from
donors. The stem cells can live and grow in special solutions in test tubes or petri dishes in laboratories.

Why can't researchers use adult stem cells instead?

Although research into adult stem cells is promising, adult stem cells may not be as versatile and durable as
are embryonic stem cells. Adult stem cells may not be able to be manipulated to produce all cell types, which limits
how adult stem cells can be used to treat diseases.
Adult stem cells also are more likely to contain abnormalities due to environmental hazards, such as toxins,
or from errors acquired by the cells during replication. However, researchers have found that adult stem cells are
more adaptable than was first thought.

What are stem cell lines and why do researchers want to use them?
A stem cell line is a group of cells that all descend from a single original stem cell and are grown in a lab.
Cells in a stem cell line keep growing but don't differentiate into specialized cells. Ideally, they remain free of
genetic defects and continue to create more stem cells. Clusters of cells can be taken from a stem cell line and frozen
for storage or shared with other researchers.
What is stem cell therapy (regenerative medicine) and how does it work?
Stem cell therapy, also known as regenerative medicine, promotes the repair response of diseased,
dysfunctional or injured tissue using stem cells or their derivatives. It is the next chapter in organ transplantation and
uses cells instead of donor organs, which are limited in supply.
Researchers grow stem cells in a lab. These stem cells are manipulated to specialize into specific types of
cells, such as heart muscle cells, blood cells or nerve cells.
The specialized cells can then be implanted into a person. For example, if the person has heart disease, the
cells could be injected into the heart muscle. The healthy transplanted heart muscle cells could then contribute to
repairing defective heart muscle.
Researchers have already shown that adult bone marrow cells guided to become heart-like cells can repair
heart tissue in people, and more research is ongoing.

Have stem cells already been used to treat diseases?

Yes. Doctors have performed stem cell transplants, also known as bone marrow transplants. In stem cell
transplants, stem cells replace cells damaged by chemotherapy or disease or serve as a way for the donor's immune
system to fight some types of cancer and blood-related diseases, such as leukemia, lymphoma, neuroblastoma and
multiple myeloma. These transplants use adult stem cells or umbilical cord blood.
Researchers are testing adult stem cells to treat other conditions, including a number of degenerative
diseases such as heart failure.

What are the potential problems with using embryonic stem cells in humans?
For embryonic stem cells to be useful in people, researchers must be certain that the stem cells will
differentiate into the specific cell types desired.
Researchers have discovered ways to direct stem cells to become specific types of cells, such as directing
embryonic stem cells to become heart cells. Research is ongoing in this area.
Embryonic stem cells can also grow irregularly or specialize in different cell types spontaneously.
Researchers are studying how to control the growth and differentiation of embryonic stem cells.
Embryonic stem cells might also trigger an immune response in which the recipient's body attacks the stem
cells as foreign invaders, or the stem cells might simply fail to function normally, with unknown consequences.
Researchers continue to study how to avoid these possible complications.

What is therapeutic cloning, and what benefits might it offer?

Therapeutic cloning, also called somatic cell nuclear transfer, is a technique to create versatile stem cells
independent of fertilized eggs. In this technique, the nucleus, which contains the genetic material, is removed from
an unfertilized egg. The nucleus is also removed from the cell of a donor.
This donor nucleus is then injected into the egg, replacing the nucleus that was removed, in a process called
nuclear transfer. The egg is allowed to divide and soon forms a blastocyst. This process creates a line of stem cells
that is genetically identical to the donor's cells — in essence, a clone.
Some researchers believe that stem cells derived from therapeutic cloning may offer benefits over those
from fertilized eggs because cloned cells are less likely to be rejected once transplanted back into the donor and may
allow researchers to see exactly how a disease develops.

Has therapeutic cloning in people been successful?

No. Researchers haven't been able to successfully perform therapeutic cloning with humans despite success
in a number of other species.
However, in recent studies, researchers have created human pluripotent stem cells by modifying the
therapeutic cloning process. Researchers continue to study the potential of therapeutic cloning in people.

IV. ELABORATE
5 Most Common Human Genetic Disorder
Genetic disorders can be the result of genetic abnormalities such as gene mutation or additional
chromosomes. The effects of abnormalities in an individual’s DNA were once entirely unpredictable. However,
modern medicine has produced methods of identifying the potential health outcomes of genetic disorders, as
evidenced by medical research from educated, advanced-degreed nurse practitioners and practicing physicians. By
collecting the following evidence-based statistical observations, these professionals have identified some of the
current best practices for detecting, treating, and potentially preventing some genetic disorders.
Down Syndrome
Typically, the nucleus of an individual cell contains 23 pairs of chromosomes, but Down syndrome occurs
when the 21st chromosome is copied an extra time in all or some cells. Nurse practitioners and physicians
commonly perform detailed prenatal screening tests, like blood tests, that detect quantities of chromosomal material
and other substances in a mother’s blood. This type of testing can determine, with high accuracy, whether or not a
child will be born with Down syndrome. When a person is diagnosed with Down syndrome, they are likely to
exhibit varying levels of mild to severe cognitive delays. Other markers of Down syndrome include a higher
disposition for congenital heart defects, low muscle tone, smaller physical stature, and an upward slant to the eyes.
According to the Centers for Disease Control and Prevention (CDC), approximately one in every 700 babies born in
the US will have Down syndrome. Also, the older a mother is at the time of birth, the more likely the child is to have
Down syndrome.

Thalassemia
Thalassemia is a family of hereditary genetic conditions that limits the amount of hemoglobin an individual
can naturally produce. This condition inhibits oxygen flow throughout the body. There is a 25 percent chance that
children who inherit the Thalassemia gene from both parents will be born with Thalassemia. People who are
especially likely to be carriers of the faulty gene that is responsible for Thalassemia include those of Southeast
Asian, Indian, Chinese, Middle Eastern, Mediterranean, and Northern African descent. With any form of
Thalassemia usually comes severe anemia, which may require specialized care such as regular blood transfusions
and chelation therapy.

Cystic Fibrosis
Cystic Fibrosis is a chronic, genetic condition that causes patients to produce thick and sticky mucus,
inhibiting their respiratory, digestive, and reproductive systems. Like Thalassemia, the disease is commonly
inherited at a 25 percent rate when both parents have the Cystic Fibrosis gene. In the United States, there are close to
30,000 people living with Cystic Fibrosis, and they frequently develop greater health problems. For instance, 95
percent of male Cystic Fibrosis patients are sterile, and the median age of survival for all patients is 33.4 years.
Educated nurse practitioners can extend the typical patient’s survival time by offering effective care strategies that
feature physical therapy, as well as dietary and medical supplementation.

Tay-Sachs disease
The genetic condition known as Tay-Sachs is carried by about one in every 27 Jewish people, and by
approximately one of every 250 members of the general population. The condition is caused by a chromosomal
defect similar to that of Down syndrome. Unlike Down syndrome, however, Tay-Sachs results from a defect found
in chromosome #15, and the disorder is irreversibly fatal when found in children. Tay-Sachs disease gradually
destroys the nervous system, frequently resulting in death by age five. Adults can also be diagnosed with Late-Onset
Tay-Sachs disease, which causes a manageable level of diminished cognitive ability. While detecting Tay-Sachs can
be accomplished by using enzyme assay methods or DNA studies, an option does exist to prevent the risk entirely.
Assisted reproductive therapy techniques can be conducted that test in-vitro embryos for Tay-Sachs before
implanting them into the mother. This can allow only healthy embryos to be selected.

Sickle Cell Anemia

Sickle Cell Disease is a lifelong genetic condition that may be inherited when the Sickle Cell trait is passed
down by both parents to their children. The trait is more commonly inherited by people with a sub-Saharan, Indian,
or Mediterranean heritage. Sickle Cell Disease causes red blood cells to change from their usual donut shape to a
sickle shape. This causes the cells to clump together and become caught in blood vessels, triggering severe pain and
serious complications such as infections, organ damage, and acute respiratory syndrome. According to the CDC,
Sickle Cell Disease affects approximately 100,000 Americans. Additionally, one in every 365 African-American
babies is born with Sickle Cell Disease. In contrast, one in every 16,300 Hispanic-American babies is diagnosed
with the disease. Modern advancements in medicine have limited the mortality rate of Sickle Cell Disease by
providing a greater variety of vaccines and treatment options.
Giving birth to a child with a genetic condition can be concerning for parents, but effective ongoing care
from trained nursing professionals can significantly ease the impact. Through a Doctor of Science in Nursing
program, nurse practitioners can expand their knowledge and practical ability to confront and mitigate these
disorders. By adding new expertise in the leading-edge detection, prevention, and treatment of genetic disorders,
advanced-degreed nurses can play a key role in helping parents, children, adult sufferers, and society at large.
V. EVALUATION

Activity 17

ESSAY. Given below are arguments that until now are still under debate in the scientific world. Do you believe the
argument? Why or why not? Answer the following by showing evidence from articles or researches. Use the space
given below. Show your sources. (50 points)
1. “Members of the LGBTQ+ such as gays and lesbians are genetic rather that environmental influence.”
2. “Gene Therapy and Stem Cell Therapy hinder the natural balance of life, death.”
 RUBRIC FOR 25 POINTS ESSAY

Category UNSATISFACTORY SATISFACTORY GOOD EXCELLENT

(2) (3) (4) (5)
Main Point The main point of Topic/thesis Topic/thesis creates Very well developed
essay is not clear. introduces the main interest and is fairly topic/thesis. It engages
point, but it either well developed. But the reader and creates
does not give while it contains interest. Contains
accurate and accurate and accurate and complete
complete complete information information regarding
information, or it regarding the main the main point to be
lacks detail and point being illustrated.
creativity. illustrated, it is not
very engaging.
Details/ Details/examples are There are Details/examples are Details/examples in the
Examples either wrong or details/examples, but clear and presented paragraph are clear and
lacking. they are either from general to well developed, with
unclear or not specific, but they are multiple points and
presented from not well developed. evidence from general to
general to specific. specific.
Organization No logical Organization is clear. Logical progression Logical progression of
/ organization. Some transitions are of ideas. Transitions ideas with a clear
Structure Transitions are not present, while others are present, but they structure that enhances
present. are either do not enhance the the essay and provides an
inappropriate or overall effectiveness exceptional illustration
missing. of the essay. of the topic with
appropriate and effective
transitions.
Style: Writing is confusing Writing is clear, but Writing is clear and Writing is smooth,
sentence and hard to follow. sentences may lack sentences have varied skillful, and coherent.
flow, tone, Contains fragments variety. The tone is structure. There is Sentences are strong and
and word and/or run-on inconsistent and word consistent tone and expressive with varied
choice. sentences. The tone choice, while word choice is structure. Consistent and
and purpose is adequate, could be appropriate. appropriate tone and
inconsistent and better. word choice is used
difficult to determine. throughout the
The word choice is paragraph.
inadequate.
Mechanics Distracting and major A few errors in A few minor errors in No errors in punctuation,
errors in grammar, punctuation, punctuation, spelling, spelling, grammar, or
punctuation, spelling, grammar, spelling, grammar, or capitalization.
and capitalization. and capitalization capitalization, but
that. While they do not detract
distracting, the from the overall
meaning and intent of meaning and
the paragraph can effectiveness of the
still be discerned. paragraph.