Gene Therapy

ORISON ACADEMY
BIOLOGY
GENE THERAPY
NAME:SRIRAM.R
CLASS:XII
BIOLOGY PRATICAL EXAM
SESSION-2021-22
CERTIFICATE
This is to certify that Sriram bearing
examination Roll No: has
successfully completed the practical file
in fulfillment of board examination
during the academic session 2021-22.
Teacher's Sign
Examiner's sign
ACKNOWLEDGMENT
I would like to express my special thanks
of gratitude to my teacher(Mrs. Dhivya)
who gave me the golden opportunity to
do this wonderful project on the topic
(GENE THERAPY) which also helped me
in doing a lot of research and I came to
know about so many new things I am
really thankful to them.
Secondly I would also like to thank

my parents and friends who helped me a
lot in finalizing this project within the
limited time frame.
INDEX
1)ABSTRACT
2)INRODUCTION TO GENE THERAPY
3)HISTORY OF GENE THERAPY
4)TYPES OF GENE THEDRAPY
5)SOMATIC GENE THERAPY
6)GERMLINE GENE THERAPY
7)TARGETS FOR GENE THERAPY
8)CHOOSING THE BEST VECTORS
9)CHALLENGES
10)RECENT UPCOMINGS
11)CONCLUSIONS
12)REFERENCE
Abstract
The term disease broadly refers to any condition that
impairs normal function, and is therefore associated
with dysfunction of normal homeostasis. When the
functioning of one or more organs or
systems of the body is adversely
affected, characterized by various signs
and symptoms, we say that we are not
healthy, i.e., we have a disease.
Health can be defined as a state of

complete physical, mental and social
well-being. When people are healthy,
they are more efficient at work. This increases
productivity and brings economic prosperity. Health
also increases longevity of people and reduces infant
and maternal mortality.
INTRODUCTION TO
GENE THERAPY
Gene therapy is a technique that modifies a person’s
genes to treat or cure disease. Gene therapies can
work by several mechanisms:
 Replacing a disease-causing gene with a healthy
copy of the gene
 Inactivating a disease-causing gene that is not
functioning properly
 Introducing a new or modified gene into the
body to help treat a disease
Gene therapy products are being studied to treat
diseases including cancer, genetic diseases, and
infectious diseases.
There are a variety of types of gene therapy products,
including:
 Plasmid DNA: Circular DNA
molecules can be genetically
engineered to carry therapeutic
genes into human cells.
 Viral vectors: Viruses have a natural ability to

deliver genetic material into cells, and therefore
some gene therapy products are derived from
viruses. Once viruses have been modified to
remove their ability to cause infectious disease,
these modified viruses can be used as vectors
(vehicles) to carry therapeutic genes into human
cells.
 Bacterial vectors: Bacteria can be modified to

prevent them from causing infectious disease and
then used as vectors (vehicles) to carry
therapeutic genes into human tissues.
 Human gene editing technology: The goals of

gene editing are to disrupt harmful genes or to
repair mutated genes.
 Patient-derived cellular gene therapy

products: Cells are removed from the patient,
genetically modified (often using a viral vector)
and then returned to the patient.
HISTORY OF
GENE THERAPY
Gene therapy has evolved over the years. Here are
some of the most important milestones that have
brought us to where we are with gene therapy today:
The structure of DNA was characterized by a

double helix3
James Watson, Francis Crick, Maurice Wilkins, and
Rosalind Franklin
The genetic code was discovered by deciphering

the three bases of DNA in 1 of the 20 amino
acids. The 19 remaining amino acids were
deciphered soon after, paving the way for new
technologies given by
Marshall Nirenberg, Harbind Khorana, and Severo
Ochoa
One of the first times gene therapy was

tested in people was done without
permission from the university who provided
funding for the National Institutes of Health
(NIH).
The FDA and NIH created new programs—the Gene
Therapy Clinical Trial Monitoring Plan and the
Gene Transfer Safety Symposia—in an effort to
ensure the safety and transparency of gene therapy
clinical trials.
Scientists developed a gene-editing technique

called CRISPR/Cas9 that can modify specific
DNA sequences.
A 4-day-old newborn received in vivo gene therapy

for spinal muscular atrophy, making her the youngest
patient at this point to receive gene therapy.
TYPES OF GENE
THERAPY
Gene
Therapy
Somatic Germline
Gene Gene
Therapy Therapy
Ex-Vivo In-Vivo
SOMATIC
GENE THERAPY
Somatic cell gene therapy involves the placement of a
human gene into a living person's
somatic cells—cells that do not
produce the eggs and sperm that
in turn produce the next
generation. Somatic cell gene
therapy would aim to cure a
disease only in the patient, not in
the patient's descendants.
Different types of somatic cell gene therapy have

since been investigated for the treatment of diseases
that are not primarily caused by inherited genes, such
as AIDS and cancer. The therapy is based on the fact
that therapeutic genes are conveyed into the somatic
cells, the effects are limited to the targeted cells, and
are not heritable. These genes are short-lived because
the cells of tissues are continuously replaced by new
cells.
IN VIVO
In vivo gene therapy refers to direct delivery of
genetic material either
intravenously (through an IV)
or locally to a specific organ
(eg, directly into the eye).
In vivo gene therapy works
through the help of a vector,
which directly inserts
functional copies of a gene
into target cells to treat a
mutated or missing gene.
EX VIVO
Ex vivo gene therapy refers to the process of removing
specific cells from a person, genetically altering them
in a laboratory, and then transplanting them back
into the person.
Ex vivo gene therapy works by genetically modifying a
patient’s stem cells, which then replace target cells
that have a missing or malfunctioning gene.
GERMLINE
GENE
THERAPY
The germline gene therapy
targets germinal or reproductive
cells. These cells produce male and female gametes
therefore the inserted gene passes to the future
generations. The transfer can also be done during
early embryonic development, e.g. during in-vitro
fertilisation, then the desired gene can be inserted in
all the cells of a developing embryo.
The germline gene therapy can be more effective and
can be a permanent cure for genetic diseases that run
in families. It has the potential to eliminate a disease
from the population. But it is not yet legal in many
countries due to ethical issues. Some people may use
it for enhancements rather than treatments.
TARGETS
FOR
GENE
THERAPY
For a disease to be targeted by gene therapy it must
satisfy the following conditions:
1. The condition must result from mutations in one or
more genes
2. To treat a genetic flaw, the knowledge of which
gene(s) to pursue is absolutely necessary. Also a DNA
copy of that gene available in the laboratory.
3. To design the best possible approach, knowledge
about how the gene factors into the disorder is
required.
4. Adding a normal copy of the gene should fix the
problem in the affected tissue. This may seem like
obvious, but it's not. What if the mutated gene
encodes a protein that prevents the normal protein
from doing its job? Mutated genes that function this
way are called dominant negative and adding back
the normal protein won't fix the problem.
5. The gene delivery to cells of the affected tissue
must be possible. It depends on:
 How accessible is the tissue? Is it fairly easy (skin,
blood or lungs), or more difficult to reach
(internal organs)?
 What is the best mode of delivery?
CHOOSING THE
BEST VECTOR
There is no "perfect vector" that can treat every
disorder. Like any type of medical treatment, a gene
therapy vector must be customized to address the
unique features of the disorder. and force them to do
what we want. Some vectors commonly used are:
Viruses
When faced with the problem of gene delivery,
scientists looked to viruses. If we can modify viruses
to deliver genes without making people sick, we may
have a good set of gene therapy tools.
General advantages of viral vectors:

1)They're very good at targeting and entering cells.
2)Some viral vectors might be engineered to target
specific types of cells.
3)They can be modified so that they can't replicate
and destroy the cell.
General drawbacks of viral

vectors:
1)A virus can't "expand" to fit a piece
of genetic material larger than it is
naturally built to carry. Therefore, some genes may be
too big to fit into a certain type of virus.
2)Viruses can cause immune responses in patients,
resulting in two potential outcomes:
3)Patients may get sick.
4)A patient's immunity to a virus may prevent him
from responding to repeated treatments.
However, modern viral vectors have been engineered
without most of the proteins that would cause an
immune response.
Non-Viral Vectors
It is sometimes more efficient to deliver a gene using
a non-viral vector, which has fewer size constraints
and which won't generate an immune response.
These are not the only way to introduce alien DNA
into host cells. In a method known as micro-
injection, recombinant DNA is directly injected into
the nucleus of an animal cell. In another method,
suitable for plants, cells are bombarded with high
velocity micro-particles of gold or tungsten coated
with DNA in a method known as biolistics or gene
gun
CHALLENGES
Some the factors that have kept gene therapy from
becoming an effective
treatment for genetic
diseases are:
1)Short-lived nature of gene therapy
Problems with integrating therapeutic DNA into the
genome and the rapidly dividing nature of many cells
prevent gene therapy from achieving any long-term
benefits. Patients will have to undergo multiple
rounds of gene therapy.
2)Immune response
Anytime a foreign object is introduced into human
tissues, the immune system is designed to attack the
invader. The risk of
stimulating the immune
system in a way that reduces
gene therapy effectiveness is
always a potential risk.
3)Problems with viral

vectors
Viruses, while the carrier of choice in most gene
therapy studies, present a variety of potential
problems to the patient toxicity, immune and
inflammatory responses.
4)Multigene disorders
Conditions or disorders that arise from mutations in
a single gene are the best candidates for gene therapy.
Unfortunately, some the most commonly occurring
disorders, such as heart disease, high blood pressure,
diabetes, are caused by the combined effects of
variations in many genes. Multigene disorders such as
these would be especially difficult to treat effectively
using gene therapy.
RECENT
UPCOMING
CRISPR
CRISPR stands for clustered regularly interspaced
short palindromic repeats. These RNA sequences
serve an immune function in archaea. The RNA
sequence serves as a guide to target a DNA sequence
in, say, a zygote or a stem cell. The guide sequence
leads an enzyme, Cas9, to the DNA of interest. Cas9
can cut the double strand, or even knock down gene
expression. After Cas9 injures the DNA, repair
systems fix the sequence - or new sequences can be
inserted.
CRISPR technology, , is so special because, unlike
previous methods which were more laborious and
could only target one kind of cell in the body, it

appears to be a "one size fits all delivery", adaptable
for different tissues. The procedure also seems
relatively simple to perform.
CONCLUSIONS
Although early clinical failures led many to dismiss
gene therapy as over-hyped, clinical successes since
2006 have bolstered
new optimism in the
promise of gene
therapy. These include
successful treatment of
patients with the
Retinal disease, X-linked SCID,
Adrenoleukodystrophy, chronic lymphocytic
leukaemia (CLL), haemophilia and Parkinson's
disease. These recent clinical successes have led to a
renewed interest in gene therapy, with several articles
in scientific and popular publications calling for
continued investment in the field.
REFERENCE
Wikipedia
Science daily
http://en.wikipedia.org/wiki/Gene_therapy
Gene Therapy Protocols Design And

Characterization Og Gene Transfer Vectors by Le
Doux.
An Introduction to Molecular Medicine and Gene

Therapy by John Wiley
http://ghr.nlm.nih.gov/handbook/therapy/
 http://en.wikipedia.org

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ORISON ACADEMY

Secondly I would also like to thank

Health can be defined as a state of

 Viral vectors: Viruses have a natural ability to

 Bacterial vectors: Bacteria can be modified to

 Human gene editing technology: The goals of

 Patient-derived cellular gene therapy

The structure of DNA was characterized by a

The genetic code was discovered by deciphering

One of the first times gene therapy was

Scientists developed a gene-editing technique

A 4-day-old newborn received in vivo gene therapy

Different types of somatic cell gene therapy have

General advantages of viral vectors:

General drawbacks of viral

3)Problems with viral

could only target one kind of cell in the body, it

Gene Therapy Protocols Design And

An Introduction to Molecular Medicine and Gene

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