It is a form of therapy that involves inserting one or more corrective genes that have been designed in the laboratory, into the genetic material of a patient's cells to cure a genetic disease. Types: somatic and germ cell gene therapy. Submitted to: Dr. Ankit Sharma

1. Gene Therapy : A Promising Future To
Disease Treatment
Presented By:-
Ekta Gupta2/15/2019 Ekta gupta

2. What is Gene therapy ?
Definition: It is a form of therapy that involves
inserting one or more corrective genes that have been
designed in the laboratory, into the genetic material of a
patient's cells to cure a genetic disease.
Reference: Ananya Mandal
NEWS Medical life sciences
2/15/2019Ekta gupta

3. HISTORY
In 1990, 4 years old Ashanti de silva became the first patient to
receive gene therapy for ADA deficiency. She continuous to lead
a healthy, active life.
In 1972, Friedmann and Roblin authored a paper entitled as “Gene
therapy for human genetic disease”
In 2007, first gene therapy trial for inherited retinal disease.
Research is still going on the number of cases that has been treated successfully by
gene therapy increases.2/15/2019
Ekta gupta

4. Types of Gene Therapy
Somatic Gene Therapy
Germ Line Gene Therapy
2/15/2019Ekta gupta

5. Somatic Gene Therapy
Therapeutic gene transferred into the somatic cell.
Transgene can not be passed on to the next generation.
Widely accepted gene therapy.
Two approaches are:- Ex vivo and In vivo
Ex vivo
 Cells are modified outside the
body and then transplanted back
 Examples: Fibroblast cells,
Hematopoietic cells.
 Gene delivery:
i. Microinjection
ii. Lipoplexes
iii. Polyplexes
iv. Electroporation
v. Transformation
vi. Transduction
vii. Conjugation
In vivo
 Cells are modified within the
body.
 Examples: Lungs, Brain
 Gene delivery:
Specially designed vehicles are
required.
Like viral vectors- Retrovirus,
Adenovirus etc.
2/15/2019
Ekta gupta

6. In vivo versus Ex vivo Gene therapy
Ekta gupta 2/15/2019
Ekta gupta

7. Fig-A: General map of a typical retrovirus.
Fig-B: Gene map of a modified retrovirus for use in gene therapy.
MAKING RETROVIRUS HARMLESS
Implant into host cell culture
New viruses production
Insert into host cell
2/15/2019 Ekta gupta

8.  Gene therapy for SCID requires
the removal of bone marrow
cells from the patient.
 The cells are cultured and the
mutant Ada gene is replaced
with a functional copy.
 The bone marrow culture is
treated with neomycin to kill
non-transformed cells.
 The bone marrow cells are then
replaced in the patient and
repopulate the blood supply
with normal blood cells.
FIGURE: Ex Vivo Retroviral Gene Therapy
for Ada Deficiency (SCID)
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9. Advantages
• It has the potential to eliminate hereditary
diseases such as ADA-SCID, Cystic fibrosis.
• It can be used to eradicate diseases from future
generations.
• It is a possible cure for heart diseases, AIDS,
cancer.
• It gives someone born with a genetic disease a
chance to life.
2/15/2019
Ekta gupta

10. Ethical Questions
How can good and bad uses be distinguished?
Will the therapy only benefit the wealthy due
to its high cost?
Could the widespread use of gene therapy
make the society less accepting people who are
different?
2/15/2019 Ekta gupta

11. Thank You
“This is just the tiniest little crack in the dam
(Gene therapy) and we’re going to see a flood of
this over the coming years.”
-Stephan Grupp
2/15/2019 Ekta gupta