This document provides an overview of gene therapy and targeted diseases. It discusses gene therapy as an experimental technique that uses genes to treat or prevent disease. Key points covered include: - Gene therapy works by introducing genetic material into cells to replace abnormal genes or make beneficial proteins - Common approaches include replacing a mutated gene, inactivating a gene, or introducing a new gene - Diseases currently being targeted include severe combined immunodeficiency, Alzheimer's, cystic fibrosis, and cancer - Administration can be in vivo or ex vivo using various carriers like viruses to deliver the new genetic material to target tissues

1. GENE THERAPY &
TARGETED DISEASES
NAME:- MR. SNEHASHIS SARKAR
ROLL NO.- 171703
STREAM- M.PHARM (PHARMACEUTICS)
SEM.- 2ND YEAR-1ST
SUBJECT- DRUG DELIVERY SYSTEM
UNDER THE GUIDANCE OF- DR. ANANTA CHOUDHURY
FACULTY OF PHARMACEUTICAL SCIENCES
ASSAM DOWN TOWN UNIVERSITY

2. Introduction
• the basic physical and
functional unit of heredity
• made up of DNA

3. Location
• In Prokaryotes- free-
floating in Cytoplasm,
plasmids
• In eukaryotes-
nucleus, mitochondria

4. DNA Packing

5. Structure of Gene

6. How Gene is expressed?
Replication Transcription Translation

7. Gene therapy
• Gene therapy is an experimental technique
that uses genes to treat or prevent disease
• It is a promising treatment option for a
number of diseases

8. Approaches
• Replacing a mutated gene
• Inactivating or “knocking out”
• Introducing a new gene into the body

9. How does it work?
Introduce genetic material into cells to replace
abnormal genes or to make a beneficial
protein.
• Gene cloning
• Carriers

10. Gene cloning

11. Carriers
Plasmid
Phage virus
Cosmid

12. Administration Types

13. Target diseases for gene therapy
• Severe Combined
Immunodeficiency Disease
• Alzheimer's disease
• In-Vivo Gene Therapy Cystic
Fibrosis
• Haemophilia
• Cancer: Immunotherapy

14. Severe Combined Immunodeficiency
Disease
• Life threatening disease
• CD34+ cells, hematopoietic
progenitor cells isolated. These
cells transduced ex- vivo by a
defective γc Moloney retrovirus

15. Alzheimer's disease
• Patients exhibit loss of memory
• fibroblasts obtained from patients
and modified ex-vivo using vectors,
so that they would express NGF

16. In-Vivo Gene Therapy Cystic Fibrosis
• hereditary disorder
• progressive decline in pulmonary
function
• mutation in the cystic fibrosis
transmembrane conductance
regulator (CFTR) gene
• CFTR cDNA to the nasal
epithelium

17. Haemophilia
• Hemophilia A and Hemophilia B
• Factor VIII and Factor IX
• With vectors and target tissues to transfer
Factors VIII and IX respectively

18. Cancer
One of the leading cause of death
• Oncolytic virus
• Suicide gene therapy

19. Conclusion
• With these many usefulness of
gene therapy it seems it definitely
has a bright future.

20. References
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will be. Estud Av. 2010;24(70):31–69.
• 2. Ginter EK. Gene therapy of hereditary diseases. Vopr Med
Khim. 2000;46(3):265–278. Review. Russian.
• 3. Mathews QL, Curiel DT. Gene therapy: human germline
genetics modifications-assessing the scientific, socioethical,
and religious issues. South Med J. 2007;100(1):98–100.
• 4. Bank A. Human somatic cell gene therapy. Bioessays.
1996;18(12):999–1007. Review.
• 5. Gardlík R, Pálffy R, Hodosy J, Lukács J, Turna J, Celec P.
Vectors and delivery systems in gene therapy. Med Sci Monit.
2005;11(4):RA110–RA121. Review.

21. THANK YOU