GENE THERAPY-BIOLOGY

A Project Report
Submitted by
A.Aadhiya Suleha
Reg.no: Grade: XII
Central Board of Secondary Education, New Delhi
In partial fulfillment of curriculum English internal
Assessment conducted by CBSE, New Delhi.

2024-2025

TRINITY CENTRAL SCHOOL [CBSE]

SENIOR SECONDARY

Affiliated to CBSE, New Delhi Affiliated no: 1930882

Chithirancode, Kanniyakumari District.

 CERTIFICATE

This to certify that A.Aadhiya Suleha is a student of

class XII with Reg.no: _______ has successfully
completed the project on GENE THERAPY The
above-mentioned project work has been completed
under my guidance during the academic year 2024-
2025 in partial fulfillment of BIOLOGY internal
assessment conducted by CBSE , New Delhi .

Internal Examiner External Examiner

Principal
 ACKNOWLEDGMENT

I would like to express my sincere gratitude to the

ALMIGHTY for his divine guidance and blessings
throughout the course of this project.

I am deeply grateful to the Correspondent, Rev.

Fr. Godvin Sounder Raj, Principal, Rev. Sr. Mary
Curie, and my subject facilitator,Mrs.R.MINCY
REETA, for their invaluable guidance, constant
encouragement, and constructive suggestions during
the course of this work.

I extend my sincere gratitude to my parents for

their unconditional support and motivation to me to
complete this project punctually.

Signature of student
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)RECENT UPCOMINGS
10)CONCLUSIONS
11)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.
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
 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 4

Marshall Nirenberg, Har Khorana, and Severo Ochoa

National Institutes of Health (NIH)

Researchers discovered a genetic engineering technique

that allows genetic material from 1 organism to be
artificially introduced, replicated, and expressed in
another 5

o DNA was spliced into a plasmid carrier (a DNA

structure that can replicate without a chromosome),

which then inserted genetic material into an E.
coli bacterium. When the bacterium reproduced, it
replicated the foreign DNA and maintained the
genetic material from the original organism

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 researcher lost multiple
 grants and NIH warned others that human
experimentation would not be tolerated
6

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.

IN VIVO
In vivo gene therapy refers to direct delivery
of genetic material either
intravenously (through an
IV) or locally to a specific
organ (ex, 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
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.

Germline gene therapy, more specifically, is the modification

of reproductive cells (sperm and egg cells) that aims to
reduce the risk of future generations inheriting faulty or
harmful genes. During germline gene therapy, a carrier cell
known as a vector is used to safely transfer new DNA into
cells
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.
Mutated genes that function this way are
called dominant negative .

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.

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

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