OM VERMA ASSOCIATE PROFESSOR GRACIOUS COLLEGE OF NURSING ABHANPUR RAIPUR C.G

1. GRACIOUS COLLEGE OF NURSING
ABHANPUR RAIPUR C.G
HUMAN GENOME PROJECT
AND
GENE THERAPY
GENE THERAPY
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR

3. GENOME
Genome is the complete DNA sequence
contained in the chromosomes of an
organism which carries its complete
genetic information. The human
genome is a complete set of nucleic acid
genome is a complete set of nucleic acid
sequences for humans,
In Humans, the genome consists of 23
pairs of chromosomes located in the
cell's nucleus,

4. Human Genome Project :- It is a mega project
was an international scientific research project
with the goal of determining the base pairs that
make up human DNA, and of identifying,
mapping and sequencing all of the genes of
HUMAN GENOME PROJECT
mapping and sequencing all of the genes of
the human genome from both a physical and a
functional viewpoint. It started in 1990 and was
completed in 2003. 13 Year project. under
Dr. james D Watson at the United States
National Institute of Health .

5. DEFINITION
Human Genome Project was an
international research effort to
determine the sequence of the human
genome and identify the genes that it
genome and identify the genes that it
contains.
According to S.S Randhawa

6. GOALS –
1. Identify all the 20,000 – 25,000 ( approx ) gens in Human
DNA. ( counting of alleles low and multiples of alleles
and their gens locus )
2. Determine the sequences of the 3 billion chemical base
2. Determine the sequences of the 3 billion chemical base
pairs that make up human DNA.
3. Develop software for large scale DNA analysis ,store all
found information in data base and improve tools for
data analysis.
4. Collect and distribute .

7. 5. Transfer related technologies to the private sectors .
6. Improve the sequencing technology by developing
New and more effective methods
7. Analyze sequence variations in the human genome,
such as single nucleotide polymorphisms ( the
such as single nucleotide polymorphisms ( the
presence of two or more variant forms of a specific
DNA sequence ) and other DNA sequence variations’
8. To map all of human gene

8. 9. To find total number of gene
1o. Study the ethical ,legal and social Issues
genetic ( right and wrong ) research that
may arise from the project.

9. USES OF HUMAN GENOME –
1. Etiology of cancers, Alzheimer's
disease etc.
2. Defining the pathogenesis of a
2. Defining the pathogenesis of a
disease and to study the disease
process at molecular
3. Sensitivity, of an individual to a
variety of illness. level.

10. 4. Precise and accurate, new ways to prevent a
Number of diseases that affect human beings.
5. To diagnose and treat disease. Target genes
for treatment and management of disease.
6. Human development and anthropology.
( human societies )
7. Improving knowledge on mutation .

11. GENE THERAPY
GENE THERAPY

12. INTRODUCTION
Gene therapy is a medical field which focuses
on the genetic modification of cells to produce
a therapeutic effect or the treatment of
disease by repairing or reconstructing defective
disease by repairing or reconstructing defective
genetic material. healthy gene may replace a
damaged (mutated) gene, inactivate a mutated
gene or introduce an entirely new gene.

13. Gene therapy is a define as the
replacement of a deficiency gene
product or repair of abnormal gene
within an individual’s cells and
tissue to treat disease.
tissue to treat disease.
According to Siddhartha Mukherjee

14. Gene therapy is a technique
which involves the replacement
of defective genes with healthy
ones in order to treat genetic
ones in order to treat genetic
disorders.
According to AND

15. Gene therapy is the insertion of genes
into an individuals cells and tissue to
treat disease and hereditary disease
and treatment in which the genes that
are missing or not normal in cell are
are missing or not normal in cell are
replace with normal genes that
condition is called gene therapy
According to V.K. Agarwal

16. Applications of gene therapy:
Gene therapy should only be
used to treat serious diseases
used to treat serious diseases
The various applications are:

17. INTRODUCTION OF NORMALLY
FUNCTIONING GENE:
The most common form of gene therapy
involves the insertion of "normal" functional
genes into the genome. When there is
genes into the genome. When there is
defective gene in the cells, it can not produce
the respective protein which normal gene
produces. In order to produce a protein
product, the defective gene causing the disease
is replaced by a healthy copy of the gene.

18. INTRODUCTION OF TOXIC GENE:
Genes whose products are toxic may be introduced to
cause direct death of malignant cells or infective
organisms in the cells.
INTRODUCTION OF PRODRUG GENE: The products of
introduced genes may act as prodrugs and kill the cells
by conventionally administered cytotoxic agents.
by conventionally administered cytotoxic agents.
INTRODUCTION OF ANTIGEN OR CYTOKINE GENE:
This may stimulate immune response against neoplastic
cells or infective disease and result in immune mediated
destruction.

19. INACTIVITY/KNOCKING OUT GENE:
The non functional defective gene may
be removed by this approach.

20. TYPES
OF
OF
GENE THERAPY

21. The cells in the body can be
divided into two main categories :-
1. Somatic Cell Therapy
1. Somatic Cell Therapy
2. Germ Cell Therapy

22. 1. SOMATIC CELL THERAPY Somatic cell gene therapy
involves the placement of a human gene into a living
person's somatic cells—cells that do not produce the
eggs and sperm that in turn produce the next generation.
Transfer of genes into the somatic cells of the patients as
cell of bone marrow Somatic cell gene therapy would
cell of bone marrow Somatic cell gene therapy would
aim to cure a disease only in the patient, Somatic gene
transfer is carried out by two methods, such as
1. IN VIVO ( a process) performed or taking place in a living organism.).
2. EX VIVO (outside the body or in the laboratory).

23. 1. IN VIVO
IN VIVO :- In vivo gene therapy, the therapeutic genetic
material is introduced directly into the patients body
new genes are inserted directly into body. is the
insertion of functioning genes directly to the human
body through the bloodstream.
2. EX VIVO
Ex vivo :- Gene therapy involves removing cells from
body, genetically modification ex vivo in a
laboratory. , and placing and transfer them back into
patient body.

24. 2. GERM CELL THERAPY-
Germline gene therapy is when DNA is transferred
into the cells that produce reproductive cells, eggs
or sperm, in the body. This type of therapy allows
for the correction of disease-causing gene variants
for the correction of disease-causing gene variants
that are certain to be passed down from generation
to generation. Germ cell therapy in germ cell are
used and it result permanent change that are
passed on to the future generations .

25. METHOD OF GENE THERAPY
METHOD OF GENE THERAPY

26. VECTORS IN GENE THERAPY
The most common form of gene therapy
involves of normal gene into the genome
with the help of certain carriers called
vectors
vectors
There are two vectors are used in gene
therapy
1. VIRAL VECTORS
2. NON VIRAL VECTORS

27. 1.VIRAL VECTORS :-
They are the most commonly used vectors.
These viruses are genetically modified
such that they do not to cause disease, in
patients who receive gene therapy. Various
patients who receive gene therapy. Various
viruses that can be used as vectors for
gene therapy include: retroviruses,
adenoviruses, herpes simplex viruses.

28. 2. NON VIRAL VECTORS
Non viral method: Gene delivery can also
be carried by non viral methods. The non-
viral vectors are Naked DNA, particle
based and chemical based.
based and chemical based.
Method:- Direct introduction The
therapeutic naked DNA is directly
introduced into target cells.

29. Liposome mediated DNA transfer :
liposome mediated gene delivery is the
way of transferring gene into the liposome
to mediate gene into the cell and perform
its desired function. liposome mediated
gene delivery is the way of transferring
gene delivery is the way of transferring
gene into the liposome to mediate gene
into the cell and perform its desired
function.
Human artificial chromosome
Stem cell of bone marrow

30. ADVANTAGE OF GENE THERAPY
1. Eliminate and prevent hereditary disease.
2. It help to eliminate disease from future
generation.
3. By this disease therapy possible to cure the
heart disease or aids and cancer .