Gene Therapy for Genetic Disorders

NAME: VIJAY RAHAVAN R

EXAM NO:

CLASS: XII-A

SUBMITTED TO: MS. VINAYA SUSAN JOSHUA

 CERTIFICATE
Certified that this is the Bona fide project work
done by Vijay Rahavan R of Class XII
Exam No………………………. during the
academic year of 2024-2025.
This project was submitted for the SSCE class XII
practical examination in BIOLOGY conducted
on………………… and as per the guidelines
issued by CBSE.

External Examiner Teacher in Charge

Principal
 ACKNOWLEDGEMENT

I would like to express my gratitude to our

Correspondent, Mrs. Bindu Sumodh and Principal, Mrs.
M. Juliet for providing me all the facilities to complete
my project.

I am extremely grateful to our Biology Teacher, Mrs.

Vinaya Susan Joshua who has guided me to complete
my project.

I would also like to thank all my friends and parents

who guided and helped me to complete this task.
 CONTENTS
Introduction
Gene Therapy
Why it is done?
Risks
Results
How does gene therapy work?
Applications of gene therapy
Conclusion
Bibliography
 Gene Therapy for
Genetic Disorders

Introduction:
Gene therapy is a medical approach
that treats or prevents disease by
correcting the underlying genetic
problem. Gene therapy techniques
allow doctors to treat a disorder by
altering a person’s genetic makeup
instead of using drugs or surgery.

The earliest method of gene therapy,

often called gene transfer or gene
addition, was developed to:

 Introduce a new gene into cells to

help fight a disease.
 Introduce a non-faulty copy of a
gene to stand in for the altered
copy causing disease.

Gene Therapy:
Gene therapy is a treatment that
involves modifying or replacing
faulty genes with healthy ones to
treat, cure, or prevent genetic
disorders. Gene therapy can work by:
 Gene transfer: Adding a new
gene to affected cells to restore
the function of a faulty or missing
gene
 Genome editing: Making precise
corrections or other targeted
changes to the DNA in cells to
restore a cell's function
 Inactivating a disease-causing
gene: Inactivating a disease-
causing gene that is not
functioning properly

Gene therapy aims to fix a faulty

gene or replace it with a healthy
gene to try to cure disease or make
the body better able to fight disease.
It holds promise as a treatment for a
wide range of diseases, such as
cancer, cystic fibrosis, heart disease,
diabetes, hemophilia and AIDS.
The U.S. Food and Drug
Administration (FDA) has approved
gene therapy products for several
conditions, including cancer, spinal
muscular atrophy, hemophilia and
sickle cell disease. But for most
people, gene therapy is available
only as part of a clinical trial.

Clinical trials are research studies

that help healthcare professionals
find out whether a gene therapy
approach is safe for people. Clinical
trials also help healthcare
professionals learn how gene
therapy affects the body.
Why it is done?
Gene therapy is done to:
Fix genes that don't work properly.
Faulty genes that cause disease
could be turned off so that they no
longer promote disease. Or healthy
genes that help prevent disease
could be turned on so that they
could stop the disease.
Replace genes that don't work
properly. Some cells become
diseased because certain genes
don't work properly or no longer
work at all. Replacing these genes
with healthy genes may help treat
certain diseases. For example, a
gene called p53 usually prevents
tumor growth. Several types of
cancer have been linked to problems
with the p53 gene. If healthcare
professionals could replace the faulty
p53 gene, the healthy gene might
cause the cancer cells to die.
Make the immune system aware of
diseased cells. In some cases, your
immune system doesn't attack
diseased cells because it doesn't see
them as intruders. Healthcare
professionals could use gene therapy
to train your immune system to see
these cells as a threat.
Risks
Gene therapy has some potential
risks. A gene can’t easily be inserted
directly into your cells. Rather, it
usually is delivered using a carrier
called a vector.
The most common gene therapy
vectors are viruses. That’s because
they can recognize certain cells and
carry genetic material into the genes
of those cells. Researchers change
the viruses, replacing genes that
cause disease with genes needed to
stop disease.
This technique presents risks,
including:
Unwanted immune system reaction.
Your body’s immune system may see
the newly introduced viruses as
intruders. As a result, it may attack
them. This may cause a reaction that
ranges from swelling to organ failure.
Targeting the wrong cells. Viruses
can affect more than one type of
cell. So it’s possible that the changed
viruses may get into cells beyond
those that aren’t working properly.
The risk of damage to healthy cells
depends on which type of gene
therapy is used and what it’s used
for.
Infection caused by the virus. It’s
possible that once the viruses get
into the body, they may once again
be able to cause disease. Possibility
of causing errors in your genes.
These errors can lead to cancer.
Results:
Gene therapy is a promising
treatment and a growing area of
research. But its clinical use is
limited today.
The earliest method of gene therapy,
often called gene transfer or gene
addition, was developed to:
 Introduce a new gene into cells to
help fight a disease.
 Introduce a non-faulty copy of a
gene to stand in for the altered
copy causing disease.
Later studies led to advances in gene
therapy techniques. A newer
technique, called genome editing (an
example of which is CRISPR-Cas9),
uses a different approach to correct
genetic differences. Instead of
introducing new genetic material
into cells, genome editing introduces
molecular tools to change the
existing DNA in the cell. Genome
editing is being studied to:
 Fix a genetic alteration underlying

a disorder, so the gene can

function properly.
 Turn on a gene to help fight a
disease.
 Turn off a gene that is functioning
improperly.
 Remove a piece of DNA that is
impairing gene function and
causing disease.

Gene therapies are being used to

treat a small number of diseases,
including an eye disorder
called Leber congenital
amaurosis and a muscle disorder
called spinal muscular atrophy.
Many more gene therapies are
undergoing research to make sure
that they will be safe and effective.
Genome editing is a promising
technique also under study that
doctors hope to use soon to treat
disorders in people.

How does gene therapy work?

Gene therapy works by replacing or
inactivating disease-causing genes.
In some cases, gene therapy
introduces new genes into your body
to treat a specific disease.

With gene therapy, healthcare

providers deliver a healthy copy of a
gene to cells inside your body. This
healthy gene may replace a
damaged (mutated) gene, inactivate
a mutated gene or introduce an
entirely new gene.

Gene addition: Gene addition

inserts a new copy of a gene into
your cells. The working gene has
instructions for the cell to produce
more of the specific protein it needs.
This method most often uses an
adeno-associated virus (AAV) to
carry the gene to the cells.
Gene silencing: Gene silencing
transfers genetic material that
prevents the activity of a gene that’s
already in a cell. This method
decreases the amount of a specific
protein the cell is making by
targeting messenger RNA (mRNA).
Gene editing: Gene editing
modifies parts of your DNA by
altering or deleting elements within
your gene. Genetic material is
delivered to edit or change pieces of
DNA located within a cell, which
corrects the protein that the DNA is
producing. Gene editing uses
technology like CRISPR/cas9.

Application of Gene Therapy

  It is used in the replacement of
genes that cause medical ill-
health
 The method generally destroys
the problem causing genes
 It helps the body to fight against
diseases by adding genes to the
human body
 This method is employed to treat
diseases such as cancer, ADA
deficiency, cystic fibrosis, etc.
Genetic engineering could be used to
cure diseases, but also to change
physical appearance, metabolism,
and even improve physical
capabilities and mental faculties
such as memory and intelligence.
Ethical claims about germline
engineering include beliefs that
every fetus has a right to remain
genetically unmodified, that parents
hold the right to genetically modify
their offspring, and that every child
has the right to be born free of
preventable diseases.
For parents, genetic engineering
could be seen as another child
enhancement technique to add to
diet, exercise, education, training,
cosmetics, and plastic surgery.
Another theorist claims that moral
concerns limit but do not prohibit
germline engineering.
A 2020 issue of the journal Bioethics
was devoted to moral issues
surrounding germline genetic
engineering in people.
Possible regulatory schemes include
a complete ban, provision to
everyone, or professional self-
regulation. The American Medical
Association’s Council on Ethical and
Judicial Affairs stated that “genetic
interventions to enhance traits
should be considered
permissible only in severely
restricted situations”
1. Clear and meaningful benefits
to the fetus or child
2. No trade-off with other
characteristics or traits
3. Equal access to the genetic
technology, irrespective of
income or other socioeconomic
characteristics.
As early in the history
of biotechnology as 1990, there have
been scientists opposed to attempts
to modify the human germline using
these new tools, and such concerns
have continued as technology
progressed. With the advent of new
techniques like CRISPR, in March
2015 a group of scientists urged a
worldwide moratorium on clinical use
of gene editing technologies to edit
the human genome in a way that
can be inherited. In April 2015,
researchers sparked controversy
when they reported results of basic
research to edit the DNA of non-
viable human embryos using CRISPR.
A committee of the
American National Academy of
Sciences and National Academy
of Medicine gave qualified support
to human genome editing in 2017
once answers have been found to
safety and efficiency problems "but
only for serious conditions under
stringent oversight."

Gene therapy can treat a

number of inherited disorders,
including:
 Cystic fibrosis
 Alpha-1 antitrypsin deficiency
  Hemophilia
 Beta thalassemia
 Sickle cell disease
 Leber congenital amaurosis, a
rare inherited condition that leads
to blindness.

Conclusion
Gene therapy offers hope for treating
genetic disorders by targeting the
underlying genetic mutations. While
there have been notable successes,
challenges such as safety, delivery
methods, and ethical considerations
remain. Continued research,
technological advancements, and
ethical discussions are crucial for
unlocking the full potential of gene
therapy and improving the lives of
those affected by genetic disorders.
 BIBLIOGRAPHY
1. www.fda.gov
2. www.nhlbi.nih.gov
3. www.mayoclinic.org
4. www.medlineplus.gov
5. www.byjus.com
6. https://en.m.wikipedia.org
7. https://
my.clevelandclinic.org