Application

Activity 1: What genes are you wearing?

Give each student a “What Genes are you Wearing?” packet that is tailored to his or her group’s
disease. Each group will present their output regarding the topic they have chosen. If time allows
have groups compare and share in a whole class room discussion. Each student will answer the
following questions.

1. Is gene therapy safe to cure genetic disorder?

According to research, it is not hundred percent sure that it is really safe. It still have a lot to prove
and it might cause some serious health risk, including cancer. The researchers are still trying it out.
So no, it is not yet safe. Further studies are still needed for one to say it’s safe.

2. If you are the patient suffering from a genetic disease are you willing to undergo gene
therapy? Why?

No, why would I risk my health for something unsure. There is a chance that I will be going to
be cured but so is getting more severe. Maybe when further studies already proved that it really is
safe and it really cures my disorder, I’ll be willing to undergo. It is genetic, my other relatives might
found some safe alternatives to cure theirs so I’m sure I will be going to use it instead of this unsure
therapy.

Activity 2: Vector Voyage

Direction: Using the library resources, complete the table below.

Retrovirus Adenovirus Adeno- Herpes Naked DNA

associated Virus Simplex Virus

How the In the form of RNA Double Single stranded Double plasmid DNA
vector molecules. stranded DNA DNA stranded DNA
carries the
genetic
material
Maximum 8,000 base pairs 7,500 base 5,000 base pairs 20,000 base No maximum
length of pairs pairs
DNA that
can be
inserted in
the vector
 Easy Low The advantage Naked plasmid
Advantage Low propagation in immunogenicity, s of HSV-1 DNA is an
s immunogenicity, high titers, easy propagation vectors are attractive
possibility of infection of in high titers, that they nonviral gene
insertion of large most cell types; infection of most infect vector.
DNA fragments insertion of of cell types, quiescent and
large DNA long-term gene dividing cells It is not toxic
fragments expression and will not
efficiently and
cause the
can encode for
immune
relatively large response.
transgenes.
Immunogenic, immunogenic, limited DNA immunogenic, While the
Disadvant requires dividing reversal to wild packaging different direct transfer
ages cells, risk of types, short capacity, viruses have of genes into
insertional period of gene integration is not different some tissues is
mutagenesis, risk of expression in always site- selectivity, straightforwar
reversion to the wild dividing cells directed, EBV is d, it has some
type, inactivation by (clearance of immunogenic oncogenic, disadvantages
complement the episome), activation of such as low
fractions in the eakage of viral latent virus, transfection
serum, relatively proteins low efficiency and
low titers, low transduction variability of
delivery rates in efficiency, gene
vivo transient expression.
expression by
available
vectors,
system is
under
development
Activity 3: GENETIC DISORDERS
Direction: Complete the table below. List down ten common genetic disorders.
Genetic disorder Gene/defect
1. Ankylosing spondylitis A variation of the hla-
b gene called hla-b27 increases
the risk of developingankylosing
spondylitis. Although many
people with ankylosing
spondylitis have the hla-b27
variation, most people with this
version of the hla-b gene never
develop the disorder.
2. Apert syndrome. Mutations in a gene known as
fgfr2 cause apert syndrome.
This gene provides instructions
for making a protein called
fibroblast growth factor receptor
2 (fgfr2). Among its multiple
functions, the fgfr2 protein plays
a key role in development before
birth by signaling immature cells
to become bone cells.
3. Duchenne Muscular Muscular dystrophy is a
Dystrophy condition that causes progressive
wasting of the muscles.
Duchenne muscular dystrophy is
a particular type of muscular
dystrophy caused by a mutation
in the DMD gene. It affects more
boys than girls.
The DMD gene helps produce a
protein called dystrophin, which
is important for muscle strength,
support and repair. People with
Duchenne muscular dystrophy
don’t produce the normal form of
dystrophin, which means their
muscles are more easily damaged
and don’t work properly.
The genetic mutation of the DMD
Clinical features
Early signs and symptoms of
ankylosing spondylitis might
include pain and stiffness in
your lower back and hips,
especially in the morning and
after periods of inactivity.
Neckpain and fatigue also are
common. Over time, symptoms
might worsen, improve or stop
at irregular intervals.
Tall skull and high prominent
forehead. Underdeveloped
upper jaw. Prominent eyes that
appear to be bulging out and
may be spaced widely apart.
Small nose.
The first thing parents usually
notice is that their child isn’t
reaching their motor (muscle
movement) milestones. They
might also notice that their
child falls over often, is clumsy
and walks on their toes.
Later, the child with Duchenne
muscular dystrophy might
develop:
 muscle weakness that
affects
their posture, walking a
nd running
 reduced joint
movement due to
shortening of their
muscles
 problems with
 gene is either inherited from
parents or caused by a genetic
change in the child.
4. Huntington Huntington's disease is an
autosomal dominantdisorder,
which means that a person
needs only one copy of the
defective gene to develop
thedisorder. With the exception
of genes on the sex
chromosomes, a person inherits
two copies of every gene — one
copy from each parent.
5. Haemophilia When a blood vessel is injured,
special proteins in the blood
called ‘clotting factors’ act to
control blood loss by plugging
or patching up the injury.
People with haemophilia have
lower than normal levels of a
clotting factor.
6. Tourette Syndrome Tourette syndrome, or TS, is an
inherited neurological disorder
that causes people to make
involuntary and uncontrollable
vocal sounds and movements,
called ‘tics’.
Recent research suggests that a
small number of Tourette
syndrome cases may be caused
by a defect on chromosome 13
of gene SLITRK1. Some cases of
tourettism (tics due to reasons
other than inherited Tourette's
syndrome) can be caused
by mutation.
their heart muscle,
affecting heart function
 difficulty breathing as
their muscle weakness
worsens
Involuntary jerking or
writhing movements (chorea)
Muscle problems, such as
rigidity or muscle contracture
(dystonia)
Slow or abnormal eye
movements.
Impaired gait, posture and
balance.
Difficulty with speech or
swallowing.
 easy bruising from an early
age
 internal bleeding for no
obvious reason, especially in
the joints and muscles
 greater than normal
bleeding following injury or
surgery
 abnormally heavy bleeding
during menstruation or after
giving birth
Tourette syndrome symptoms
are usually mild, but can
sometimes be severe.
One set of symptoms is known
as movement tics. People with
movement tics can find
themselves jerking their head,
stretching their neck, stamping
their feet, and twisting and
bending. Some people may bite
themselves or hurt themselves in
other ways, or find it necessary
to repeatedly touch other
people and things.
Another set of symptoms is
known as vocal tics. People with

7. Angelman syndrome Angelman syndrome is caused
by a loss of function of a gene
called ube3a onchromosome 15.
The exact mechanism that
causes this loss of function is
complex. People normally
inherit one copy of the ube3a
gene from each parent. Both
copies of this gene are turned on
(active) in many of the body's
tissues .
8. Albinism Albinism (oca) — a group of
inherited disorders where there
is little or no production of the
pigment melanin. The type and
amount of melanin your body
produces determines the color
of your skin, hair and eyes.
Ehlers-Danlos syndrome is a
genetic condition that mainly
9. Ehlers – Danlos
affects the joints and skin and
Syndrome
walls of the blood vessels
10. Down syndrome People who inherit an
unbalanced translocation
vocal tics might clear their
throat, cough, sniff, click their
tongue, grunt, yelp, bark or
shout. Some also swear or
repeat certain sounds or
phrases.
Delayed development,
intellectual disability, severe
speech impairment, and
problems with movement and
balance (ataxia).
Albinism occurs with vision
problems, which may include:
Strabismus (crossed eyes)
Photophobia (sensitivity to
light)
Nystagmus (involuntary rapid
eye movements)
Impaired vision or blindness.
Astigmatism.
There are many different types
of EDS. All of them involve
extremely flexible joints and
fragile skin that bruises and
stretches easily.
Some find their joints are so
flexible that they have frequent
dislocations, and this often leads
to pain in the joints.
Some people with EDS have
distinctive facial features such as
a thin nose, thin upper lip, large
eyes and ears without lobes.
Flattened face.
Small head.
involving chromosome 21 may
have extra genetic material from
chromosome 21, which
causes down syndrome. Like
trisomy 21, mosaic down
syndrome is not inherited. It
occurs as a random event during
cell division early in fetal
development.
Short neck.
Protruding tongue.
Upward slanting eye
lids (palpebral fissures)
Unusually shaped or
small ears.
Poor muscle tone.
Broad, short hands
with a single crease in the
palm.