2. Gene therapy
Gene therapy is a treatment or cure for disorders
caused by mutated genes.
It involves adding a normally functioning copy of the
gene(s) to enough affected cells to restore normal
function
3. Genetics & Human Diseases
• About 4,000 human diseases are thought to
be inherited.
• Scientists are making good progress figuring
out where genes are located on
chromosomes.
• Genetic diseases are caused by mutations, or
incorrect sequences, in the normal form of
the gene
5. Cystic Fibrosis
• Cystic fibrosis (CF) is a genetic disorder that affects mostly
the lungs, but also the pancreas, liver, kidneys, and intestine.
• CF is inherited in an autosomal recessive manner.
• It is caused by the presence of mutations in both copies of
the gene for the cystic fibrosis transmembrane conductance
regulator (CFTR) protein.
• CFTR is involved in production of sweat, digestive fluids, and
mucus.
• When CFTR is not functional, secretions which are usually thin
instead become thick.
• There is no known cure for cystic fibrosis.[3] Lung infections
are treated with antibiotics which may be given intravenously,
inhaled, or by mouth.
6. Sickle Cell Anemia
• Sickle-cell disease (SCD) is a group of blood
disorders typically inherited from a person's parents.
• It results in decrease in oxygen carrying capacity of
hemoglobin protein in red blood cell.
• It occurs when a person receive both abnormal copies
of hemoglobin gene from their parents.
• These gene occur in chromosome 11.
• Occur due to the single gene mutation occur in Beta
chain of Hemoglobin which leads to replacement of
glutamic acid with valine at position 6.
7. Huntington’s Disease
• Huntington's disease (HD), also known as Huntington's chorea,
is an inherited disorder that results in death of brain cells.
• A lack in the coordination of the different parts of the body in
initial phase uncoordinated speaking. As the disease advances,
uncoordinated, jerky body movements become more apparent.
• The disease is caused by an autosomal dominant mutation in
either of an individual's two copies of
a gene called Huntingtin(HTT).
• Exact function of the huntingtin gene is unknown but it appears
that it is responsible for the growth for the nerve cells in brain .
• Huntingtin gene occurs on the short arm of chromosome no. 4.
• HTT gene consists of the sequence of the three DNA sequence
that is Cytosine- Arginine - Guanosine (CAG)
8. Huntington’s Disease
• CAG is the 3 letter genetic code that lead to production of
amino acid glutamine , so a series lead to production of the
polyglutamine tract(polyQ tract)
• Normally people have 36 or less glutamine unit which
results in production of the Huntington gene.
• More production of glutamine leads to formation of the
leads to production of altered gene called Mutated
Huntington gene which is cause of Huntington’s Disease .
9. Hemophilia
• Hemophilia is genetic disorder which impairs
the blood clotting properties of human body.
• It means that the blood will continuously flow
after a small injury or scratch.
• It is a sex linked recessive disorder.
• It occurs due to the mutation on X
chromosome.
10. Treatment process in Gene therapy.
• Ex vivo method of gene therapy.
• In vivo method of gene therapy.
13. Future Applications of Gene therapy.
Gene therapy can become the strategy of choice in a wide
variety of clinical settings, improvements in the efficiency of
gene transfer into target cells and in the maintenance of
expression from the relevant transferred gene must occur.
The future aspects include
• Treatment of HIV
• Treatment of infectious disease.
• Early Prediction of disease occurring.
