ABSTRACT
Gene therapy is the introduction of genes into existing cells to prevent or cure a wide range of diseases. It is a technique for correcting defective genes responsible for disease development. The first approved gene therapy experiment occurred on September 14, 1990 in US when Ashanti DeSilva was treated for ADA-SCID. Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein. If a mutated gene causes a necessary protein to be faulty or missing, gene therapy may be able to introduce a normal copy of the gene to restore the function of the protein. A gene that is inserted directly into a cell usually does not function. Instead, a carrier called a vector is genetically engineered to deliver the gene. Certain viruses are often used as vectors because they can deliver the new gene by infecting the cell. The viruses are modified so they can't cause disease when used in people. Some types of virus, such as retroviruses, integrate their genetic material (including the new gene) into a chromosome in the human cell. Other viruses, such as adenoviruses, introduce their DNA into the nucleus of the cell, but the DNA is not integrated into a chromosome.
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
Preimplantation Genetic Diagnosis (PGD)/Screening (PGS) With IVFKaberi Banerjee
Pre-implantation genetic Screening (PGS) or Pre-implantation genetic diagnosis (PGD) plays an important role in increasing the chances of pregnancy for infertile couples.
Preimplantation genetic diagnosis (PGD) is a procedure used to diagnose embryos for known genetic disorders that both the patients and partners.
Read more: https://www.advancefertility.in/preimplantation-genetic-diagnosis-pgd-pgs-with-ivf/
ABSTRACT
Gene therapy is the introduction of genes into existing cells to prevent or cure a wide range of diseases. It is a technique for correcting defective genes responsible for disease development. The first approved gene therapy experiment occurred on September 14, 1990 in US when Ashanti DeSilva was treated for ADA-SCID. Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein. If a mutated gene causes a necessary protein to be faulty or missing, gene therapy may be able to introduce a normal copy of the gene to restore the function of the protein. A gene that is inserted directly into a cell usually does not function. Instead, a carrier called a vector is genetically engineered to deliver the gene. Certain viruses are often used as vectors because they can deliver the new gene by infecting the cell. The viruses are modified so they can't cause disease when used in people. Some types of virus, such as retroviruses, integrate their genetic material (including the new gene) into a chromosome in the human cell. Other viruses, such as adenoviruses, introduce their DNA into the nucleus of the cell, but the DNA is not integrated into a chromosome.
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
Preimplantation Genetic Diagnosis (PGD)/Screening (PGS) With IVFKaberi Banerjee
Pre-implantation genetic Screening (PGS) or Pre-implantation genetic diagnosis (PGD) plays an important role in increasing the chances of pregnancy for infertile couples.
Preimplantation genetic diagnosis (PGD) is a procedure used to diagnose embryos for known genetic disorders that both the patients and partners.
Read more: https://www.advancefertility.in/preimplantation-genetic-diagnosis-pgd-pgs-with-ivf/
Computational Advertising in Yelp Local Adssoupsranjan
How does Yelp decide which relevant business or service to show you as an ad within 10s of milliseconds of your visit? What are the criteria and metrics by which we measure success of our ad serving system?
In this talk, the audience will learn about how Yelp figures out the best ad to show a user during his visit to Yelp: via a 2nd price auction amongst all the matching advertisers. Powering this 2nd price auction is a Machine Learning based system that predicts Click Through Rates (CTR) for all ads and an Auto-Bidding system that determines the optimal bid price for each ad per user request.
Yelp's local advertising presents challenges that are unique compared to display, social or mobile advertising. I'll motivate this via some trends and data observations. One of the interesting aspects is business categories and geolocation: How far are people willing to travel to visit a restaurant? What about professional services like plumbers: are users less or more sensitive to how far those are compared to restaurants?
I'll provide examples of how we use our open-sourced Map Reduce package (MRJob) to scale ML feature engineering and performance metric computation. I'll also provide details on our Machine Learning pipeline built using the popular open source packages: Python scikit-learn, Vowpal Wabbit and Apache Spark.
This talk would give you an in-depth overview of advertising systems, and why with increasingly sophisticated ad systems, in future we will wonder why we ever hated ads!
Gene therapy is the process of inserting therapeutic genes into cells to prevent or cure wide range of diseases. The newly introduced genes will encode proteins and correct the deficiencies that occur in genetic diseases. Gene therapy primarily involves genetic manipulations in animals or humans to correct a disease, and keep organism in good health. It is a technique for correcting defective genes responsible for disease and development.
Computational Advertising in Yelp Local Adssoupsranjan
How does Yelp decide which relevant business or service to show you as an ad within 10s of milliseconds of your visit? What are the criteria and metrics by which we measure success of our ad serving system?
In this talk, the audience will learn about how Yelp figures out the best ad to show a user during his visit to Yelp: via a 2nd price auction amongst all the matching advertisers. Powering this 2nd price auction is a Machine Learning based system that predicts Click Through Rates (CTR) for all ads and an Auto-Bidding system that determines the optimal bid price for each ad per user request.
Yelp's local advertising presents challenges that are unique compared to display, social or mobile advertising. I'll motivate this via some trends and data observations. One of the interesting aspects is business categories and geolocation: How far are people willing to travel to visit a restaurant? What about professional services like plumbers: are users less or more sensitive to how far those are compared to restaurants?
I'll provide examples of how we use our open-sourced Map Reduce package (MRJob) to scale ML feature engineering and performance metric computation. I'll also provide details on our Machine Learning pipeline built using the popular open source packages: Python scikit-learn, Vowpal Wabbit and Apache Spark.
This talk would give you an in-depth overview of advertising systems, and why with increasingly sophisticated ad systems, in future we will wonder why we ever hated ads!
Gene therapy is the process of inserting therapeutic genes into cells to prevent or cure wide range of diseases. The newly introduced genes will encode proteins and correct the deficiencies that occur in genetic diseases. Gene therapy primarily involves genetic manipulations in animals or humans to correct a disease, and keep organism in good health. It is a technique for correcting defective genes responsible for disease and development.
In this slide, You will get to learn abut Gene Therapy and different types of gene therapy. Various method of Gene Therapy and Advantage & Disadvantage and Recent advances in Gene Therapy.
Introduction:
RNA interference (RNAi) or Post-Transcriptional Gene Silencing (PTGS) is an important biological process for modulating eukaryotic gene expression.
It is highly conserved process of posttranscriptional gene silencing by which double stranded RNA (dsRNA) causes sequence-specific degradation of mRNA sequences.
dsRNA-induced gene silencing (RNAi) is reported in a wide range of eukaryotes ranging from worms, insects, mammals and plants.
This process mediates resistance to both endogenous parasitic and exogenous pathogenic nucleic acids, and regulates the expression of protein-coding genes.
What are small ncRNAs?
micro RNA (miRNA)
short interfering RNA (siRNA)
Properties of small non-coding RNA:
Involved in silencing mRNA transcripts.
Called “small” because they are usually only about 21-24 nucleotides long.
Synthesized by first cutting up longer precursor sequences (like the 61nt one that Lee discovered).
Silence an mRNA by base pairing with some sequence on the mRNA.
Discovery of siRNA?
The first small RNA:
In 1993 Rosalind Lee (Victor Ambros lab) was studying a non- coding gene in C. elegans, lin-4, that was involved in silencing of another gene, lin-14, at the appropriate time in the
development of the worm C. elegans.
Two small transcripts of lin-4 (22nt and 61nt) were found to be complementary to a sequence in the 3' UTR of lin-14.
Because lin-4 encoded no protein, she deduced that it must be these transcripts that are causing the silencing by RNA-RNA interactions.
Types of RNAi ( non coding RNA)
MiRNA
Length (23-25 nt)
Trans acting
Binds with target MRNA in mismatch
Translation inhibition
Si RNA
Length 21 nt.
Cis acting
Bind with target Mrna in perfect complementary sequence
Piwi-RNA
Length ; 25 to 36 nt.
Expressed in Germ Cells
Regulates trnasposomes activity
MECHANISM OF RNAI:
First the double-stranded RNA teams up with a protein complex named Dicer, which cuts the long RNA into short pieces.
Then another protein complex called RISC (RNA-induced silencing complex) discards one of the two RNA strands.
The RISC-docked, single-stranded RNA then pairs with the homologous mRNA and destroys it.
THE RISC COMPLEX:
RISC is large(>500kD) RNA multi- protein Binding complex which triggers MRNA degradation in response to MRNA
Unwinding of double stranded Si RNA by ATP independent Helicase
Active component of RISC is Ago proteins( ENDONUCLEASE) which cleave target MRNA.
DICER: endonuclease (RNase Family III)
Argonaute: Central Component of the RNA-Induced Silencing Complex (RISC)
One strand of the dsRNA produced by Dicer is retained in the RISC complex in association with Argonaute
ARGONAUTE PROTEIN :
1.PAZ(PIWI/Argonaute/ Zwille)- Recognition of target MRNA
2.PIWI (p-element induced wimpy Testis)- breaks Phosphodiester bond of mRNA.)RNAse H activity.
MiRNA:
The Double-stranded RNAs are naturally produced in eukaryotic cells during development, and they have a key role in regulating gene expression .
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
Richard's aventures in two entangled wonderlandsRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
Unveiling the Energy Potential of Marshmallow Deposits.pdf
BIOLOGY IPR- 2022-23.pdf
1. VIDYALAYA,
TIKIRA, GHATAGAON, KEONJHAR - 758029
SESSION 2022-23
BIOLOGY INVESTIGATORY
PROJECT REPORT
TOPIC :- GENE THERAPY
SUBMITTED BY :-
Mr. LOKESH RANJAN MAHANTA
CLASS : XII-SCIENCE
SECTION : ‘B’
SCHOOL ROLL NO. : 09
CBSE ROLL NO. :
SUBMITTED TO :-
Mr. AMAN RATHOD
(PGT Biology)
SUBJECT : BIOLOGY
2. CERTIFICATE
This is to certify that this Biology Investigatory Project on the topic
‘GENE THERAPY’
has been successfully completed by
MR. LOKESH RANJAN MAHANTA
of class XII(B) under the guidance of
MR. AMAN RATHOD
for the fulfillment of the curriculum of the Central Board of Secondary
Education (CBSE) leading to 12th Board examination of session 2022-23.
i
Teacher In-charge External Examiner Principal
Date : / /
3. ACKNOWLEDGMENT
In the accomplishment of this project successfully, I would like to
express my gratitude and appreciation to all those who gave me the
possibility to complete this.
Primarily I would thank God for being able to complete this
project with success. Then I would like to thank our Biology teacher
Mr. Aman Rathod whose valuable guidance and pieces of advice
have been the ones that helped me patch this project and make it a
full-proof success. I would also like to thank our Principal Mr.
Suvendu Kumar Moharaj for his suggestions and his instructions
that served as the major contributor towards the completion of the
project.
Finally, I would like to thank my parents for helping me
economically and my classmates who have helped me with their
valuable suggestions that have been helpful in various phases of the
completion of the project.
ii
4. DECLARATION
I hereby declare that the investigatory project report
entitled ‘GENE THERAPY’ submitted to Odisha Adarsha
Vidyalaya, Tikira, is a record of an original work done by me
under the guidance of Mr. Aman Rathod, PGT Biology,
Odisha Adarsha Vidyalaya, Tikira, and this project report is
submitted for the partial fulfillment in particular fulfillment of
curriculum of Central Board of Secondary Education (CBSE)
leading to the 12th Board examination of session 2022-23. This
project report is not submitted to any other educational institute
or for any other purpose.
iii
CLASS : XII(B)
5. CONTENTS
1. Certificate ……………..……………………………………….. i
2.Acknowledgement ………………………………………….. ii
3.Declaration ……………………………………………………. iii
4.Introduction …………………………………………………..... 2
5. Brief history of Gene Therapy …………………………… 4
6. Types of Gene Therapy ……………………………….......... 5
7. Vectors of Gene Therapy …………………………………. 13
8.Methods of Gene Delivery ………………………………… 20
9. Success cases of Gene Therapy …………………………. 22
10.Problems with Gene Therapy ………………………….. 23
11.Ethical issues ……………………………………………......... 24
12.Conclusion ………………………………………………….… 25
13.Bibliography ……………………………………………......... 26
6.
7. INTRODUCTION
WHAT IS A GENE ?
A gene is a basic unit of heredity.
It is located in chromosomes.
It encodes protein formation.
Replication
Transcription
Translation
Protein
DNA RNA
Reverse transcription
Proteins formed to carry out
various functions.
If gene dysfunctions, it causes
altered protein formation.
When there is a mutation in the
gene, then the wrong codon will
code for the wrong amino acid in the
protein which leads to an alteration
in the basic structure of the protein.
2
8. WHAT IS GENE THERAPY?
Gene therapy is a medical approach
that treats or prevents diseases by
correcting the underlying genetic
problem.
These techniques allow doctors to
treat a disorder by altering a
person’s genetic makeup instead of
using drugs or surgery.
There are four approaches:-
1) A normal gene is inserted to compensate for the dysfunctional gene.
2)An abnormal gene is traded for a normal gene. 3
3)An abnormal gene is repaired through selective reverse mutation.
4)Change the regulation of gene pair.
9. BRIEF HISTORY OF GENE THERAPY
US Office of
The National
Technology
Institute of Health
(NIH) took lead in
recombinant DNA
(rDNA) research
regulation.
Jesse Gelsinger
becomes the
first fatality in
gene therapy.
Assessment
stressed the
difference 637 GT clinical
trials (3464
patients)
between somatic
and germ-line
therapy.
1974 1999 2005
1984
2003
1967 1990
1980
4
Nobelist
Marshall
Nirenberg
wrote for
programming
cells.
The National
Institute of
Health (NIH)
performed
the first
approved
gene therapy
procedure.
FDA placed a
temporary halt
on all gene
Dr. Martin J.
Cline performs
the first DNA
transfer into
bone marrow
cells.
therapy trials
using retroviral
vectors in
blood stem
cells.
10. TYPES OF GENE THERAPY
Gene therapy is classified into two types:-
1) Somatic Gene Therapy
2) Germ-line Gene Therapy
1) SOMATIC GENE THERAPY
In somatic gene therapy, the desired
therapeutic gene is transferred to
somatic cells or stem cells of the
human body.
The gene is not transferred to the
offspring.
This is related to a single person and
the only person who has the
damaged cell will be replaced with
healthy cells.
5
This technique is considered the
best and safest method of gene
therapy.
Mechanism of Somatic gene therapy
11. 2) GERM-LINE GENE THERAPY
In germ-line gene therapy, the
desired therapeutic gene is
introduced in the germ cells
(eggs or sperms) of the human
body.
The gene gets transferred from
one generation to another
generation.
This method is generally adopted
to treat the genetic, disease
causing-variations of genes that
are passed from the parents to
their children.
This therapy is not legal in many 6
Mechanism of Germ-line gene therapy
places as the risk outweigh the
rewards.
12. DIFFERENCES BETWEEN SOMATIC GENE
THERAPY AND GERM-LINE GENE THERAPY
In somatic gene therapy,
In germ-line gene therapy,
unhealthy cells are modified
concerned genes are
with the correct gene and
transferred into gametic or
then transferred into the
early embryonic cells.
patient’s body.
Cannot be inherited by
future generations.
Effective in target cells
only.
Effective in all cells.
Carried out multiple times
as it does not last for long.
Can be carried out once for
long lasting effects.
For safety, ethical and
technical reasons, it is not
being attempted at present.
7
E.g., Introduction of genes
into bone marrow cells,
blood cells, skin cells etc.
E.g., Genes introduced into
eggs and sperms.
13. TYPES OF SOMATIC GENE THERAPY
SOMATIC GENE THERAPY
EX VIVO IN VIVO
Ex vivo gene therapy refers to
the process of removing specific
cells from a person, genetically
altering them in a laboratory,
and then transplanting them
back into the person.
In vivo gene therapy refers to
the direct delivery of genetic
material either intravenously
(through an IV) or locally to a
specific organ (e.g., directly into
the organ).
It works through the help of a
vector, which directly inserts
functional copies of a gene into
target cells to treat a mutated
or missing gene.
This technique has been proven
in many areas of research.
Some of the currently approved
gene therapies deliver genetic
material in vivo.
works by genetically
modifying a patient’s stem cells,
which then replace target cells
that or
malfunctioning gene.
This technique is used to treat
blood and immunological
have a missing
8
diseases as well as genetic
diseases that affect tissues and
organs that can be reached by
blood cells.
14. EX VIVO GENE THERAPY
Procedure for ex vivo gene therapy is as follows:-
Isolate cells with genetic defect
from a patient.
1
2
3 Introduce the therapeutic genes.
4
5
Select genetically corrected cells
and grow them. 9
Transplant the modified cells to
the patient.
15. EX VIVO GENE THERAPY
Example:-
ADA (Adenosine deaminase) Deficiency
1st gene therapy(1990) – to correct the deficiency of
the enzyme, Adenosine deaminase (ADA).
It was performed on a 4-year-old girl Ashanthi
DeSilva.
She was suffering from SCID (Severe Combined
Immunodeficiency).
SCID Ashanti DeSilva
Caused due to a defect in the
gene coding for ADA.
Deoxyadenosine accumulates
and destroys T-lymphocytes.
Disrupts immunity,
suffer
thus
from
patients
infectious diseases and die at
a young age.
10
Procedure to treat ADA deficiency
16. IN VIVO GENE THERAPY
Procedure for ex vivo gene therapy is as follows:-
Therapeutic genes are inserted
in the vectors.
1
Genetically altered DNA is
injected into the patient’s body.
2
DNA is incorporated into the
target cells.
3
4
11
Proteins encoded by the inserted
genes are produced.
17. IN VIVO GENE THERAPY
Example:-
Cystic Fibrosis
Cystic fibrosis is a progressive,
genetic disease that causes
persistent lung infections and
limits the ability to breathe over
time.
In patients with cystic fibrosis, a
protein called Cystic Fibrosis
Transmembrane Regulator (CFTR)
is absent due to a gene defect.
In the absence of CFTR, chloride
ions concentrate within the cells
and draws water from the
surrounding.
This lead to the accumulation of
sticky mucous in the respiratory
tract and lungs.
12
Treated by in vivo replacement of
defective gene by adenovirus
vector.
Gene therapy for Cystic fibrosis
18. VECTORS IN GENE THERAPY
To transfer the desired gene into the target cell, a carrier or vehicle
is required. Such vehicles of gene delivery are known as ‘VECTORS’.
There are two main classes of vectors. Those are:-
1) Viral vectors
2) Non-viral vectors
13
Viral vectors Non-viral vectors
19. IDEAL VECTORS
An ideal vector must have the following
features:-
Target the right cells.
Small size and low molecular weight.
Integrate the gene in the cells.
Activate the gene.
Avoid harmful side effects
In the real world, no universal vector exists.
1) VIRAL VECTORS
Viruses introduce their genetic material into
the host cell as part of their replication cycle.
These are used as vectors by removing their
viral DNA and inserting the therapeutic DNA
in them.
14
The viruses used are altered to make them
safe, although some risks still exist with this
technique of gene therapy.
20. TYPES OF VIRAL VECTOR
A number of viruses have been used for human gene therapy including :
1) Retrovirus
2) Adenovirus
3) Adeno-associated virus
4) Herpes simplex virus
1) RETROVIRUS
The recombinant retroviruses have the ability to
integrate into the host genome.
The typical maximum length of an allowable DNA
insert in a retroviral vector is about 8-10 kB.
Target – actively dividing cell.
Retrovirus
15
Action of Retrovirus
21. a) LENTIVIRUS
Subclass of retroviruses.
The viral genome in the form of RNA is reverse-
transcribed when the virus enters the cell to produce
DNA, which is then inserted into the genome at a random
position via the viral integrase enzyme.
Target – dividing, non-dividing cells Lentivirus
2) ADENOVIRUS
Adenoviral DNA does not integrate into the genome and
is not replicated during cell division.
Humans commonly come in contact with adenovirus. The
majority of patients have already developed neutralizing
antibodies which can inactivate the virus.
Target – dividing, non-dividing cells
3) ADENO-ASSOCIATED VIRUS Adenovirus
It is a small virus and it affects humans and other primates.
It enters the host cell, becomes double-stranded, and gets
integrated into chromosomes.
16
It is not currently known to cause disease and consequently
the virus causes a very mild immune response.
Target – non-dividing, dividing cells
Adeno- associated virus
22. 4) HERPES SIMPLEX VIRUS
The herpes simplex virus is a human neurotropic
virus.
This is mostly examined for gene transfer in the
nervous system.
These viruses have a natural tendency to infect a
particular type of cell. Herpes simplex virus
ADVANTAGES AND DISADVANTAGES OF USING VIRAL VECTORS
They can cause immune
amount of genetic
materials. Therefore some
genes may be too big to fit
into some viruses.
17
DISADVANTAGES
23. 2) NON- VIRAL VECTORS SYSTEM
1) PURE DNA EXTRACT
Direct introduction of pure DNA
construct into the target tissue.
Efficiency of DNA uptake by cells and
expression is rather low.
Consequently, large quantities of DNA
have to be injected periodically.
Pure DNA extract
2) DNA MOLECULAR CONJUGATES
Commonly used synthetic conjugate is
poly-L-lysine bound to specific target
cell receptors.
Therapeutic DNA is then made to
combine with the conjugate to form a
complex.
18
It avoids the lysosomal breakdown of
DNA.
Poly-L-lysine
24. 3) LIPOPLEXES
Lipid DNA complexes.
DNA construct surrounded by artificial lipid
layer.
Most of it gets degraded by lysosomes.
4) HUMAN ARTIFICIAL CHROMOSOME
Can carry a large DNA i.e., with one or
more therapeutic genes.
ADVANTAGES AND DISADVANTAGES OF USING NON-VIRAL VECTORS
ADVANTAGES
Easy to produce
Good transduction of some
cell types
19
There is no limit to the
transgene size
Useful for local therapy
DISADVANTAGES
25. METHODS OF GENE DELIVERY
1) PHYSICAL METHODS
i) GENE GUN/ BIOLISTICS
It uses a gun-like instrument to send
desired genes inside host cells.
It introduces the desired rDNA into a
plant cell by coating it with gold or
tungsten and firing it into the tissue at
high velocity.
ii) MICROINJECTION Gene gun Mechanism of gene gun
In this method, the host cells are forced to
take up the desired rDNA molecules using
microinjection.
This is a physical method that requires the
usage of a specialized optical microscope.
The host cell is selected, and the rDNA is
injected into the host cell.
20
This method is generally used to introduce
rDNA into animal cells. Microinjection
26. 2) CHEMICAL METHODS
i) USING DETERGENT MIXTURE
Certain charged chemical compounds
like calcium phosphates are mixed with
functional cDNA of the desired
function.
The mixture is introduced near the
vicinity of recipient cells.
The chemicals disturb the cell
membrane, widen the pore size, and
allow cDNA to pass through the cells.
Gene transfer using detergent mixture
ii) LIPOFECTION
It is a technique used to inject genetic
materials into a cell using
transfection agents like liposomes.
Liposomes are artificial phospholipid
vesicles used to deliver a variety of
molecules including DNA into the
cells.
21
Mechanism of lipofection
27. SUCCESS CASES OF GENE THERAPY
1) SICKLE CELL ANEMIA
It is a genetic condition that affects the
RBCs.
It affects the hemoglobin in the blood
and causes RBCs to be rigid and shaped
like the letter ‘C’ or a sickle
Until recently, a bone marrow transplant
is the only cure for sickle cell anemia.
Gene therapy for Sickle cell anemia
2) PARKINSON DISEASE
It is a long-term degenerative disorder of the
central nervous system that mainly affects
the motor system.
Gene therapy in Parkinson’s disease consists
of the creation of new cells that produce a 22
specific neurotransmitter (dopamine),
protect the neural system, or modification of
genes that are related to the disease.
Gene therapy for Parkinson disease
28. PROBLEMS WITH GENE THERAPY
SHORT-LIVED NATURE OF GENE THERAPY:
Patients will have to undergo multiple rounds of gene therapy.
1
IMMUNE RESPONSE:
Stimulates the immune system that reduces gene therapy 2
effectiveness.
PROBLEMS WITH VIRAL VECTORS:
Potential problems to the patient like toxicity, immune and
inflammatory responses, and gene control targeting are created.
3
23
MULTI GENE DISORDER :
Disorders like heart disease, high blood pressure, arthritis, and 4
diabetes are caused by the combined effect of many genes.
29. ETHICAL ISSUES OF GENE THERAPY
Is it all right to use
the therapy in the
prenatal stage of
development in
babies?
What is normal
and what is the
disability or
disorder and who
decides?
Should people be
allowed to use gene
therapy to enhance
basic human traits such
as height, intelligence,
etc.? 5
1
3 Preliminary attempts at
Who will have
access to your
genetic
gene therapy are
expensive. Who will have
access to these therapies?
Who will pay for their use?
Is it interfering
with God’s plan?
information?
24
2 4
6
30. CONCLUSION
Theoretically, gene therapy is the permanent solution
for genetic diseases. But some treatments are short-
lived and have to be repeated.
1
g
2
I
But it has several complexities. At its current stage, it
is not accessible to most people due to its huge cost.
3 A breakthrough may come at any time, and a day may come
when almost every disease will have gene therapy.
4
Gene therapy has the potential to revolutionize the
practice of medicine.
25
31. BIBLIOGRAPHY
NCERT Biology Book – XII
www.youtube.com
www.googleimages.com
http://en.wikipedia.org/wiki/Gene_therapy
http://en.wikipedia.org/wiki/Somatic_gene_therapy
http://en.wikipedia.org/wiki/Germ_line_gene_therapy
http://www.medindia.net/articles/genetherapy_treatment.htm
www.byjus.com
And more…
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