This document discusses gene therapy, which involves introducing a normal functional gene into a patient's cells to correct a genetic disorder. It provides examples of genetic disorders that may be candidates for gene therapy, such as Down syndrome, cystic fibrosis, and sickle cell anemia. The document outlines the mechanisms of gene therapy, including using viral vectors to deliver therapeutic genes to targeted cells. Requirements for effective gene therapy and different methods like ex vivo and in vivo approaches are also summarized. Potential advantages include providing treatment for previously untreatable genetic diseases, while disadvantages include high costs and safety concerns.

1. GENE THERAPY
SUBMITTING TO
Mr. PRASHANT
UPADHYAY
PROFESSOR IFTMU
PRESENTING BY
HARVINDAR SINGH
M. PHARM 2nd SEM

2. GENETIC DISORDER
A genetic disorder is a disease that is caused by
an abnormality in an individual's DNA.
Abnormalities can range from a small mutation
in a single gene to the addition or subtraction of
an entire chromosome or set of chromosomes

3. GENETIC DISORDERS
 Down’s Syndrome
 Kleinfelter’s syndrome
 Sickle Cell Anemia
 Cystic Fibrosis (CF)
 Tay-Sachs disease
 Muscular Dystrophy
 Hemophilia, the royal disease
 Huntington’s Disease
 Phenylketonuria
 Adenoleukodystrophy
 Diabetes
 Color Blindness
 Albinism
 Hairy ears

4. GENE THERAPY
• Definition: the introduction of a normal
functional gene into cell of patient which
contains the defective allele of concerned gene
with the objective of correcting a genetic
disorder or an acquired disorder.
• Gene therapy is a method where an absent or
faulty gene is replaced by a working gene in
order to make the correct enzyme or protein
and eliminate the cause of diseases

5. HOW GENE THERAPY WORKS
• The genes will be contained in vector carriers
that seek out targeted cells
• – such as tumor cells – and bypass all others
• When the carriers reach their targets, they will
unload their genetic material
• and give rise to a helpful protein

7. Genetic Defects that are Candidates
for Gene Therapy

8. VECTORS
• Are the vehicles used to carry the beneficial genetic material to
the mutated cells
• A completely reliable, safe and efficient vector is not yet
available
• A perfect vector would target specific cell types, insert their
genetic information into a safe site in the genome, and be
regulated by normal physiological signals

9. General Principles
• The various approaches to gene therapy
includes
• Addition of normal genes to replace the
function of a mutant gene.
• Replacement of mutant gene sequence of
normal gene sequences.
• By construction of novel gene.
• By altering gene regulation.

10. MECHANISM OF GENE
THERAPY
• The general mechanism of gene therapy involves basic steps
-
• 1. The approximately 100000 genes in a cell encode the
many proteins used by the body.
• 2. Each gene is a segment of the DNA molecule in a
chromosome.
• 3. Researchers used a virus whose DNA naturally inserts
into human DNA.
• 4. They splice a human gene into the viral genome.
• 5. Place the modified virus into the human respiratory tract.
• 6. The viruses invade the cells, carrying along the gene. The
latter encodes proteins to provide relief from the disease.

11. HISTORY AND DEVELOPMENT
OF GENE THERAPY
1960: The concepts of Gene Therapy was introduced
1970: Friedmann and Roblin author of a paper in Science titled
"Gene therapy for human genetic disease?” cite the first
attempt to perform gene therapy.
1990: The first approved gene therapy case at the National
Institute of Health, U.K. It was performed on a four year old
girl named Ashanti DaSilva. It was a treatment for a genetic
defect that left her with an immune system deficiency.
New gene therapy approach repairs errors in messenger RNA
derived from defective genes. This technique has the potential
to treat the blood disorder Thalassaemia, Cystic fibrosis, and
some cancers
Sickle cell disease is successfully treated in mice

12. Mechanism of gene therapy

13. REQUIREMENT FOR GENE
THERAPY
There are several requirements for a gene
therapy protocol to be effective. Firstly, the gene
defects itself will have been characterized and
the gene cloned and available in a form suitable
for use in a clinical program. Secondly, there
must be a system available for getting a gene
into a correct site in the patient. A large number
of approaches have been tried for effective
transfer of gene to appropriate target site.

14. 1. Ex vivo – gene therapy

15. General principles
• The various approaches to gene therapy
includes-
• Addition of normal genes to replace the
function of a mutant gene.
• Replacement of mutant gene sequence of
normal gene sequences.
• By construction of novel gene.
• By altering gene regulation.

16. 2. In vivo- gene therapy

17. Methods
• The transfer and expression of recombinant gene
in various target cells in gene therapy requires.
• Efficient transformation of a larger number of
primary cells, specific for various cells and organs
and
• Transformation be carried without causing any
alteration in the structure of the recombinant gene
of target cell.
• The methods employed are DNA mediated and
viral mediated.

18. Applications
• Any deviation in the normal functioning of a cell
or tissues of a particular organ are theoretically
amenable to correction by somatic gene therapy.
• The potential of a gene therapy to alter the
phenotype of a given disease may differentially be
affected by variables such as the cellular location
of gene product, level of expression, degree of
regulation, and number of cells transformed with
normal genes.

19. • Many disorders cause abnormalities during
early development which may not be reversed
by subsequent gene therapy i.e.
phenylketonuria.

20. HOW IT WORKS??
Used harmless viruses enable access to the cells
beneath the retinas of patients By using a very
fine needle , safe in an extremely fragile tissue
and can improve vision in a condition previously
considered wholly untreatable.

21. ADVANTAGES OF GENE
THERAPY
• Give a chance of a normal life to baby born
with genetic disease.
• Give hope of healthy life to cancer patient.
• For certain disease that do not have any cure
except gene therapy, it could save many lives

22. DISADVANTAGES OF
GENE THERAPY
• The genetic testing, screening and research in
finding the availability of certain gene is very
controversy.
• May increase rate of abortion if prenatal test
regarding baby with genetic disease is done.
• The cost is very high and the patient might need
an insurance to cover the treatment.
• Cosmetic industry may monopolized this gene
therapy, if it is used in enhancing beauty and in
vanishing the aging effect, rather than used for
treatment of a disease.