Gene Theraphy

• When DNA is introduced into a patient to treat a genetic disease

• The new DNA usually contains a functioning gene to correct the effects of a disease-causing
mutation

• Gene therapy uses sections of DNA to treat or prevent disease

• The DNA is carefully selected to correct the effect of a mutated gene that is causing disease

• The technique was first developed in 1972 but had limited success in treating human diseases

• Promising treatment option for some genetic diseases

• Muscle Dystrophy - an inherited disorder that gradually causes the muscle to weaken

• Cystic fibrosis - genetic condition in which the lungs and digestive system become
clogged with thick, sticky mucus. It is due to a specific mutation in a single gene that
encodes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein.

• Two different types of gene therapy depending on which types of cells are treated:

1. Somatic gene therapy

2. Germline gene therapy

• Somatic gene theraphy

• transfer of a section of DNA to any cell of the body that doesn’t produce sperm or eggs

• Effects of gene therapy will not be passed onto the patient’s children

• Germline gene theraphy

• Transfer of a section of DNA to cells that produce eggs or sperm

• Effects of gene therapy will be passed onto the patient’s children and subsequent
generations

• Gene theraphy techniques:

1. Gene augmentation theraphy

2. Gene inhibition therapy

3. Killing of specific cells

• Gene Augmentation Theraphy

• This is used to treat diseases/ loss of function disorders (e.g. Cystic fibrosis) caused by a
mutation that stops a gene from producing a functioning product, such as a protein.

• Adds DNA containing a functional version of the lost gene back into the cell

• Gene Inhibition Theraphy

• Infectious diseases, cancer and inherited disease caused by inappropriate gene activity

• Basis: eliminate the activity of a gene that encourages the growth of disease-related
cells

• E.g. cancer is sometimes the result of the over-activation of an oncogene

• Oncogene - gene which stimulates cell growth

• Killing of Specific Cells

• Suitable for diseases such as cancer that can be treated by destroying certain groups of
cells

• Insert DNA into a diseased cell that causes that cell to die

• It is essential with this method that the inserted DNA is targeted appropriately
to avoid the death of cells that are functioning normally.

• How is DNA transfer done?

• A section of DNA/gene containing instructions for making a useful protein is packaged

within a vector (virus, bacterium or plasmid)

• DNA/gene is expressed by the cell’s normal machinery

• production of the therapeutic protein and treatment of the patient’s disease

• The vector acts as a vehicle to carry the new DNA into the cells of a patient with a genetic
disease.

• Challenges of Gene Therapy

• Delivering the gene to the right place and switching it on

 • Avoiding the immune response by using vectors that are less likely to trigger an immune
response

• Making sure the new gene doesn’t disrupt the function of other genes

• The cost of gene therapy may be very expensive

1. delivering a gene into the wrong cell would be inefficient and could also cause health problems for
the patient;

2. Scientists therefore have the challenge of finding a way to deliver genes without the immune system
'noticing'.

3. This could have damaging effects, for example, if it interferes with an important gene involved in
regulating cell division, it could result in cancer.

4. Many genetic disorders that can be targeted with gene therapy are extremely rare

• Questions:

• What is Stem Cell Theraphy?

• What is the reason why people undergo stem cell theraphy?

• What are the pros and cons of stem cell theraphy?

• Where is Stem Cell Theraphy available?