GENE THERAPY

Patrick Neil M. Gener

Eric B. Lauzon Jr.
 What is Gene
Therapy

Gene therapy is the insertion of
genes into an individual's cells and
tissues to treat a disease, such as a
hereditary disease in which a
deleterious mutant allele is replaced
with a functional one. Although the
technology is still in its infancy, it has
been used with some success.
 How It
Works
 A vector delivers the therapeutic
gene into a patient’s target cell
 The target cells become
infected with the viral vector
 The vector’s genetic material is
inserted into the target cell
 Functional proteins are created
from the therapeutic gene
causing the cell to return to a
normal state
Gene Therapy is Experimental

 Advances in understanding and

manipulating genes have set the
stage for scientists to alter a
person's genetic material to fight or
prevent disease. Gene therapy is an
experimental treatment that involves
introducing genetic material (DNA or
RNA) into a person's cells to fight
disease.
 Types of Gene Therapy
Gene therapy using germ line cells results
in permanent changes that are passed down
to subsequent generations. If done early in
embryologic development, such as during
preimplantation diagnosis and in vitro
fertilization, the gene transfer could also
occur in all cells of the developing embryo.
The appeal of germ line gene therapy is its
potential for offering a permanent
therapeutic effect for all who inherit the
target gene.
 Types of Gene Therapy
Somatic cells are nonreproductive. Somatic cell
therapy is viewed as a more conservative, safer
approach because it affects only the targeted cells
in the patient, and is not passed on to future
generations. In other words, the therapeutic effect
ends with the individual who receives the therapy.
However, this type of therapy presents unique
problems of its own. Often the effects of somatic
cell therapy are short-lived. Because the cells of
most tissues ultimately die and are replaced by
new cells, repeated treatments over the course of
the individual's life span are required to maintain
the therapeutic effect.
 CATEGORIES OF SOMATIC CELLS

EX VIVO Which means exterior (where

cells are modified outside the body and
then transplanted back in again).

IN VIVO which means interior (where

genes are changed in cells still in the
body). This form of gene therapy is called
in vivo, because the gene is transferred to
cells inside the patient’s body.
 What Gene Therapy can Achieve
 Replacing a mutated
gene that causes
disease with a healthy
copy of the gene.
 Inactivating, or
“knocking out,” a
mutated gene that is
functioning improperly.
 Introducing a new gene
into the body to help
fight a disease.
 Uses of Gene
Therapy
 Replace missing or defective genes;
 Deliver genes that speed the
destruction of cancer cells;
 Supply genes that cause cancer cells
to revert back to normal cells;
 Deliver bacterial or viral genes as a
form of vaccination;
 Provide genes that promote or impede
the growth of new tissue; and;
 Deliver genes that stimulate the
healing of damaged tissue.
 Goal of Gene
 A normal genetherapy
may be inserted into a non-
specific location within the genome to
replace a non-functional gene. This
approach is most common.
 An abnormal gene could be swapped for a
normal gene through homologous
recombination.
 The abnormal gene could be repaired
through selective reverse mutation, which
returns the gene to its normal function.
 The regulation (the degree to which a gene
is turned on or off) of a particular gene
could be altered.
Delivering desired
Genes