GENE

THERAPY
Presented by
Sana Noor 001
Alishba Saleem
014
Ahmad liaqat
006
 Contents
Introduction to Gene Therapy Applications
Types of Gene Therapy Challenges & Limitations
Other approaches of gene therapy Future directions
• Vectors for gene delivery • Conclusion
Gene

• A gene is a basic unit of heredity that contains

DNA instructions for making proteins, which
determine physical traits and cell functions..
Gene Therapy
Gene therapy is the process of inserting 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.
History
• The concept of gene therapy was first
introduced in the early 1970s.
• The first successful gene therapy was
administered on September 15, 1990
• When a four-year-old girl suffering from a rare
immune disorder, adenosine deaminase
deficiency, received functional copies of the
recombinant ADA gene.
Somatic Gene Therapy
Targets non-reproductive (body) cells.
Affects only the treated individual, not inherited by offspring.
Most common and ethically accepted form.
• Used for treating diseases like cancer, cystic fibrosis, and hemophilia.
Germline Gene Therapy
Targets egg or sperm cells (reproductive cells).
Changes are heritable and passed to future generations.
Ethically controversial and banned in many countries.
• Not currently used in human clinical practice.
 In Vivo Gene Therapy
• Gene is delivered directly into the patient’s body.
• Suitable for tissues that are hard to remove (e.g., brain,
muscle, liver).
Ex Vivo Gene Therapy
Patient’s cells are extracted, modified with the
therapeutic gene in the lab, and reinserted into
the body.
• Commonly used in blood-related disorders
and immunodeficiencies.
 The defective gene causing the disease is
1
identified

2 A delivery system (usually a virus) is

chosen to carry the gene.

How does gene

therapy works 3
the lab.
A healthy copy of the gene is created in

The healthy gene is inserted into the patient’s

4target cells.

The new gene produces functional proteins,

5 correcting the disease effect.
 Vectors and Their Role in Gene Delivery

What Are Vectors?

Vectors are carriers used to deliver therapeutic
genes into the target cells.
They help transport the gene across the cell
membrane and sometimes into the nucleus.
• Vectors can be viral or non-viral, each with
unique advantages and limitations.
 Viral Vectors
• Viral vectors are genetically modified viruses used to deliver
therapeutic genes into a patient’s cells. Their natural ability to
infect cells makes them highly efficient for gene transfer.
 How They Work?

The virus’s disease-causing genes are removed, making it safe.

A therapeutic gene is inserted into the virus.
1. The virus is used as a vehicle to enter target cells.
2. Once inside, the virus delivers the gene into the cell’s nucleus,
allowing it to produce the correct protein.
 Non-Viral Vectors
Synthetic or physical methods to transfer DNA without using viruse
Liposomes
Fat-based vesicles that merge with cell membranes
Polymeric Nanoparticles
• Biodegradable materials that deliver genes safely.
 Applications of Gene Therapy
• Gene therapy is being used in:
• Inherited diseases like cystic fibrosis,
hemophilia, and muscular dystrophy by fixing
or replacing faulty genes.
• Cancer treatment by modifying immune cells
(like CAR-T cells) to attack cancer.
• Viral infections, such as HIV, where therapy
may help control or eliminate the virus.
 Case Study 1: SCID (Severe Combined
Immunodeficiency)
• SCID is known as “bubble boy disease”
because patients have no working immune
system.
• Gene therapy has successfully inserted the
correct gene into bone marrow cells, allowing
patients to develop a normal immune system.
• This was one of the first major successes in
gene therapy.
Case Study 2: Leber’s Congenital Amaurosis
(LCA)
• LCA is a genetic eye disorder causing
childhood blindness.
• Gene therapy delivers a working copy of the
RPE65 gene directly into the retina.
• Some patients have regained partial vision,
showing hope for vision restoration.
 Benefits of Gene Therapy
• Long-lasting or permanent cure by targeting
the root cause.
• Fewer side effects compared to traditional
treatments like chemotherapy.
• Reduces the need for lifelong medications in
chronic diseases.
 Challenges in Gene Therapy
• Delivery issues: Getting the gene into the right
cells is still tricky.
• Immune reactions: The body might fight the
viral vectors.
• Off-target effects: Gene editing tools like
CRISPR can sometimes affect unintended parts
of DNA.
 Ethical Concerns
• Germline editing (changes passed to future
generations) raises big ethical questions.
• Fair access: Will only rich people afford this?
• Unknown long-term effects: We still don't
know all the risks in the long run.
 Regulations and Approvals
• Gene therapy must pass strict testing in
clinical trials (Phases I–III).
• FDA and EMA regulate the approval and
safety.
• Patient safety is the top priority, especially
with new genetic technologies.
 Recent Advances
• CRISPR trials are being used in cancer and
blood diseases like sickle cell anemia.
• Personalized gene therapy is being developed
to match treatment to the individual.
• New drug delivery systems are improving how
genes are transported safely into cells.
 Future of Gene Therapy
• Could expand to many more diseases,
including Alzheimer's or diabetes.
• Artificial intelligence (AI) and genomics will
make treatment faster and more precise.
• Costs are expected to drop, making it more
accessible in the future.
 Summary
• Gene therapy has tremendous potential to
cure previously untreatable diseases.
• While there are risks and challenges, the
technology is improving fast.
• It offers hope for millions and could change
the future of medicine.
Thank You