This document discusses gene therapy, which involves introducing genes into cells to treat diseases. It describes two main approaches - somatic cell gene therapy, which targets non-reproductive cells, and germ line cell gene therapy, which is not currently attempted due to safety and ethical concerns. Two methods of gene delivery are described: ex vivo therapy involves culturing cells outside the body before reintroduction, while in vivo therapy directly delivers genes to target cells. Examples of successful gene therapies mentioned are for severe combined immunodeficiency, hemophilia, and blindness. Although promising, gene therapy faces challenges and high costs that limit widespread application currently.

1. THE OXFORD COLLEGE OF SCIENCE
DEPARTMENT OF MICROBIOLOGY
SEMINOR REPORT
ON
GENE THERAPY
SUBMITTED BY GUIDED BY
SHRAVANI A N Mr. ARKAJITH GANGULY
P03MS21S0292 ASSISTANT PROFESSOR
II YEAR MSC DEPARTMENT OF MICROBIOLOGY

2. CONTENT
• INTRODUCTION
• GENE THERAPY
• APPROCHES FOR GENE THERAPY
a) SOMATIC GENE THERAPY
b) GERM CELL GENE THERAPY
• THERAPIES
a) EX VIVO
b) IN VIVO
• CONCLUSION
• REFERENCES

3. INTRODUCTION
 • Gene therapy is the introduction of genes into existing cells
to prevent or cure a wide range of diseases.
 • It’s is a technique for correcting defective genes responsible
for diseases development.
 • The first approved gene therapy experiment occurred on
September 14,1990 in US, when AshantiDesilva was treated
for ADA-SCID.

4.  GENE THERAPY
Inserting genes into cells to treat diseases.
Encode proteins and correct the deficiencies
involves genetic manipulations in animals (or) humans .
Animals and then in humans
Expressed in gene therapy strategies is depicted in
GENE AUGMENTATION GENE THERAPY
GENE INHIBITION THERAPY

5. GENE AUGMENTATION
A DNA is inserted into the genome to
replace the missing gene product.

6. GENE INHIBITION GENE THERAPY
The antisense gene inhibits the expression of
the dominant gene

7. APPROACHES FOR GENE THERAPY
1 somatic cell gene therapy
2 germ cell gene therapy
1.somatic cell
non reproductive (non-sex) cells
of an organism.
Ex: bone marrow cells, blood cells, skin cells, intestinal cells
to correct the genetic defects in somatic cells.
Insertion of a fully functional and expressible gene into it target
somatic cell.

8. 2.Germ cell gene therapy
 Reproductive (sex) cells of an organism constitute germ cell line.
 Introduction of DNA into germ cells.
 For safety, ethical and technical reasons germ cell gene therapy is not being
attempted at present.

9. VECTORS IN GENE THERAPY
 VIRUSES (RETROVIRUS)
 HUMAN ARTIFICIAL CHROMOSOME
 BONE MARROW CELLS

10. 1.Ex vivo gene therapy
this involves the transfer of gene in cultured cells which
are then reintroduced into patient.
applied to only selected tissues whose cells can be cultured in
the laboratory
the technique of Ex vivo gene therapy involves the following
steps
1.Isolate cells with genetic defect from a patient
2.Grow the cells in culture.
3.Introduce the therapeutic gene to correct gene defect.
4.select the genetically corrected cells and grow.
5.Transplant the modified cells to the patient.

11. EXAMPLE OF EXVIVO GENE THERAPY
severe combined immune deficiency (SCID)

12. IN VIVO GENE THERAPY
• Directdeliveryofthetherapeuticgeneintothetargetcells.
• Theseincludeliver,muscle,skin,spleen,lungs,brainand
bloodcells.
• Genedeliverycan be carriedoutbyviral(or)non-viral
vectorsystems

13. IN VIVO GENE THERAPY
the success of in vivo gene therapy mostly depends on
the following parameters.
1. the efficiency of the uptake of the remedial gene by the
target cells.
2.intracellular degradation of the gene and its uptake by
nucleus.
3.the expression capability of the gene.

14. EXAMPLE : CYSTIC FIBRIOSIS TRANSMEMBRANE
REGULATER
Functioning gene is
inserted into harmless
virus vector
Virus inters lung
cell nucleus
Lung cell with
Functional gene
Cells now with a
normal gene
functions

15. RECENT EXAMPLE OF GENE THERAPY
SICKLE CELL DISEASE
WHAT IS SICKLE CEII DISEASE ?
Sickle cell disease (or) sickle cell anemia (SCD) is a genetic
disease of the red blood cells (RBCs), normally RBCs are
shaped like discs, which gives them the flexibility to travel
through even the smallest blood vessels.
However with this disease the RBCs have an abnormal
crescent shape resembling a sickle.

16. This makes them sticky and rigid and prone to
getting trapped in small vessels which blocks
blood from reaching different parts of the body.
This can cause pain and tissue damage.

17. It can be done by either fixing the faulty hemoglobin gene
(or) turning on a different healthy hemoglobin gene.
Although gene therapy for SCD isn’t currently available for
most people .

19. SUCCESSFUL GENE THERAPY
1.severe combined immune deficiency,
2. Hemophilia
3. Blindness caused by retinitis pigmentosa

20. CONCLUSION
• Theoretically , gene therapy is the permanent solution For genetic
diseases.
• But it has several complexities.at it’s current stage It is not accessible to
most people due to its huge cost.
• A break through may come anytime and a day may come When almost
every diseases will have a gene therapy.

21. PREVIOUS YEAR QUESTIONS
1.Write a note on gene therapy (5mrks)- 2014, 2018,
2019.

22. REFERENCES
• Satyanarayan U, Biotechnology,1st edition ,
book and allied (p)Ltd , Kolkata.
• Http://en.wikipedia.org/wiki/Gene therapy
• Http://www.medindia.net/article/gene
therapy treatment.htm