MODULE 14

GREPALDA, RIZZABELLE
GAMBOA, KIM JEWEL
GURANG, MARLENE
LEAL, HAZEL MAE
* GENE THERAPY
*
OBJECTIVES

1. Explain the principle behind gene therapy and

its various forms.

2. Assess the issue’s potential benefits and

detriments to global health.
 *INTRODUCTION

*This module is about Gene therapy, a product of modern

biotechnology which serves as avenue for man to
understand better the molecular basis of health and disease.

These include the genetic diseases, types of gene therapy,

approaches or how gene therapy delivered. The death from
gene therapy and success of gene therapy. Ethical
issues will also be a concern.
 * 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.
 * Genetic diseases may be classified into four
(4) categories:
1. Single - genes changes
- Single locus (gene) is defective and responsible for the disease; is 100%
heritable.
Examples include sickle cell anemia, hypercholesterolemia, and cystic
fibrosis.

2. Multigene disorders
- Two or more genes are defective and responsible for the disease and; is
less than 100% heritable. This disease may be dependent on environmental
factors and lifestyle. Examples include heart disease, cancer and diabetes.
3. Mitochondrial disorders
- Mutation in the mitochondrial DNA cause diseases that affect many
organ system.

4. Chromosomes abnormalities
-Sometimes complete chromosomes or parts of the chromosomes
are missing, duplicated, or modified in some way.
Example include Down syndrome.
 TYPES OF GENE THERAPY

Somatic cells- A somatic cell is any cell of the body

except sperm and egg cells. Somatic cells are diploid,
meaning that they contain two sets of chromosomes, one
inherited from each parent.

Germline cells- A germ line is the sex cells (eggs and

sperm) that are used by sexually reproducing
organisms to pass on genes from generation to
generation.
 Somatic cells are nonreproductive. Somatic cell therapy is viewed as a
more conservative, safer approach because it affects only the target
cells in the patient, and is not passed on to future generations.

This type of therapy presents unique problems of its own. Often the
effects of somatic cell therapy are short-lived.

Because the cells of most tissues ultimately die and are replaced by
new cells, repeated treatments over the course of the individual's life
span are required to maintain the therapeutic effect. Transporting the
gene to the target cells or tissue is also problematic.
Regardless of these difficulties, however, somatic cell gene
therapy is appropriate and acceptable for many disorders,
including cystic fibrosis, muscular dystrophy, cancer, and
certain infectious diseases.

Clinicians can even perform this therapy in utero, potentially

correcting or treating a life-threatening disorder that may
significantly impair a baby's health or development if not
treated before birth.

Gene therapy using germ line cells results in permanent

changes that are passed down to subsequent generations.
The appeal of germ line gene therapy is its potential for offering
a permanent therapeutic effect for all who inherit the target
gene. Successful germ line therapies introduce the possibility of
eliminating some diseases from a particular family, and
ultimately from the population, forever. However, this also raises
controversy.

Some people view this type of therapy as unnatural , and liken it to

"playing God." Others have concerns about the technical aspects. They
worry that the genetic change propagated by germ line gene therapy may
actually be deleterious and harmful, with the potential for unforeseen
negative effects on future generations.
In summary, the distinction is that the results of any
somatic gene therapy are restricted to the actual
patient and are not passed on to his or her children.
All gene therapy to date on humans has been
directed at somatic cells, whereas germ line
engineering in humans remains controversial and
prohibited in for instance the European Union.
Gene therapy approaches:
The use of vectors in gene therapy.
There are multiple approaches to gene therapy research,
including inserting a healthy copy of the mutated gene,
inactivating a mutated gene that is functioning improperly, or
introducing a new gene into a target tissue, such as the retina,
in the body. Somatic gene therapy can be broadly split into two
categories:
1. Ex vivo - which means exterior (where cells are modified outside the body
and then transplanted back in again). In some gene therapy clinical trials,
cells from the patient’s blood or bone marrow are removed and grown in the
laboratory. The cells are exposed to the virus that is carrying the desired
gene. The virus enters the cells and inserts the desired gene into the cells’
DNA. The cells grow in the laboratory and are then returned to the patient by
injection into a vein. This type of gene therapy is called ex vivo because the
cells are treated outside the body.

2. In vivo - which means interior (where genes are changed in

cells still in the body). This form of gene therapy is called in vivo,
because the gene is transferred to cells inside the patient’s body.
• As extensively evaluated in clinical trials, the outcome of
gene therapy relies heavily on both the vector and the
efficient delivery of the gene to the target cell.

• An ideal vector should be able to protect a transgene against

degradation by nucleases, allow transport of the transgene
into the nucleus of target cells, and have minimal inflammatory
effects.

• Viruses are used because they can efficiently gain access

to host cells to exploit the cellular machinery and facilitate
their replication.
 Viruses used as vectors

a. The adeno-associated virus (AAV) -is a

small, nonenveloped virus that packages a
linear, single-stranded DNA genome.

b. The adenovirus (Ad) -is a nonenveloped virus

that contains a linear, double-stranded DNA genome.

c. The lentivirus (LV) -is an enveloped retrovirus

containing a positive sense, single-stranded RNA genome.
Success of Gene Therapy

• In 2003, the first commercial gene

therapy was approved in China.

• The therapy marketed under the name

Gendicine, treats head and neck squamous
cell carcinoma.

• This is an injectable therapy that contains an

adenovirus vector with p53 tumor-suppressor
gene.
 What are some ethical issues surrounded by Gene Therapy

• Because gene therapy involves making changes to the body's

set of basic instructions, it raises many unique ethical concerns.

The ethical questions surrounding gene therapy include:

• How can "good" and "bad" uses of gene therapy be

distinguished?

• Who decides which traits are normal and which constitute a

disability or disorder?
• Who decides which traits are normal and which constitute
a disability or disorder?

• Will the high costs of gene therapy make it available to the

wealthy?

• Could the widespread use of gene therapy make society

less accepting of people who are different?
SUMMARY

• Gene therapy is the transfer of a therapeutic or working

copy of a gene into specific cells of an individual.

• The technique may be used to replace a faulty gene, or to

introduce a new gene whose function is to cure or to
favourably modify the symptoms of a condition.

• Gene therapy is still an experimental technique and

much research remains to be done before this approach
to the treatment of conditions will realize its full potential.
 Gene Theraphy News

• A family is trying to raise over $2 million to give their baby a

gene therapy treatment to save her life -CNN July 12, 2020 | 00:45 am

•Neurogene’s Gene therapy for CLN5 Named Orphan Drug

by FDA - Batten Disease News July 10, 2020 | 18:00 pm

• Freeline Raises $120M for Pivotal Trial of FLT180a, a Gene

Theraphy... Hemophilia News Today July 10, 2020 | 14:00 pm
• Incredible Progress New Research Reports Possible
Gene Theraphy for ALS NBC10 Boston July 9, 2020 | 02:22 am

• Biogen boosts gene theraphy strategy with Harvard pact

focused on inherited eye disease - Fierce Biotech July 6, 2020 |
16:55 pm
THAT’S ALL THANKYOU!!