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Patients Personal Details

Name: Connor
Surname: Curran
Age: 4 Years Old
Birthdate:
Gender: Male
Parent/ Guardian: Jessica Curran, James Curran
Allergies: None
Immunization: yes

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Patient history:
Previous Surgeries: None
Previous Illness Diagnosis: None
Other comments/ Problems:
Clumsy
falling often
late walker
trouble getting up from lying down/ sitting
difficulty running

What Brought you in Today?

Initial symptoms:
Enlarged calf muscles
(pseudohypertrophy)
Late walker
Waddling gait
Difficulty keeping balance
Muscle Cramps
Headaches
Mental dullness
Difficulty concentrating
Scoliosis starting to develop
muscle contractures

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Doctors’ examination report

Patient: Connor Curran
Age: 4
Physician: Dr. Joshua E Donald
Diagnosis report:
Blood tests: Creatine Kinase 4000 U/L
Dystrophin analysis: Absent Dystrophin staining
DNA test: positive for large deletions exon 48-
51
Inheritance: x linked recessive
Result: Duchenne muscular Dystrophy

Evaluation and monitoring of Cardiomyopathy:

ECG: clear
Cardiac MRI: Clear

Respiratory management:
Monitoring vital capacity- pulmonary function test: clear

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TREATMENT
Physical occupation: Strengthen & stretches muscles
Speech therapy: helps with problems swallowing.
Corticosteroids:
1) Deflazacort – Assist in retaining muscle strength
2) Prednisone – slow down muscle damage
Eteplirsen (Exondys 51)- Exon skipping treatment, used to
skip over deleted exons to create a better genetic reading

Surgery: for tendon release in contractures

To correct Scoliosis

Patient is eligible for PF-06939926 Gene therapy clinical

trial.

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Modern Biotechnology
Biotechnology integrates natural science and organisms. It is
the process of using living systems and organisms to solve
problems and make useful products. These useful products
are made from whole organisms or parts of organisms such
as molecules, cells, tissues and organs. There are various
applications to modern biotechnology, some of the most
common genetic engineering, cell infusion from methods
such as breeding and fermentation.

1.Gene therapy refers to the altering of genes inside a body’s

cells, with the intention of treating, or stopping a disease.
Our genes contain DNA, this is a code that controls how
each body is formed and functions. Genes that don’t work
properly because of a missing link, or mutation can cause
diseases. Gene therapy replaces a faulty gene or adds a new
gene in an attempt to cure a disease, or improve a body’s
ability to fight against certain diseases. Gene therapy has
been studied to help fight against illnesses such as: Cystic
Fibrosis, heart disease and diabetes.
Some methods of gene therapy include procedures called
gene transfer or gene addition. The aim of these procedures
is to introduce a new gene into cells to help fight disease, or
introduce a non-faulty copy of a gene to stand in for the
mutation causing the disease.
An example of gene therapy used to fight against disease
can be seen in the disease Severe Combined Immune
Deficiency (ADA-Scid). This disease describes children
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born without an immune system. Gene therapy is used in a

process where the therapeutic gene called ADA is
introduced into the bone marrow cells, followed by the
transplantation of genetically corrected cells back into the
patient. The immune system is then restored in the patient.

2.Molecular Diagnoses
Is the process of identifying a disease by studying molecules
such as DNA and RNA in a tissue or fluid. It describes a
class of diagnostic tests that assess a person’s health at a
cellular and molecular level. These tests detect cellular
alterations and genetic sequences in the DNA, RNA, amino
acids and proteins, how all of the are sequenced together and
expressed allow doctors to diagnose various diseases.
Molecular tests use Polymerase Chain Reaction. This is a
method used to make millions to billions of copies of a
specific DNA sample. This allows doctors or scientists to take
a small sample of the DNA and amplify it to a large scale and
study it, to assess the sequence and expressions and thus
diagnose various diseases. These tests can detect illnesses in
areas such as:
infectious disease
Hematopathology- which is diseases or disorders affected
and found in the blood
Genetics
solid tumors

A simple blood test can now detect genetic information such

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as tumors and pregnancy. The FDA have cleared test using

this method to diagnose respiratory, gastrointestinal and
central nervous system infections. Molecular diagnosis use In
Vitro biological assays such as PCR-Elisa. The assay detects a
molecule, which is a marker of a disease. Not only are these
tests used to detect gene mutations associated with diseases,
they are also used to detect inherited diseases at prenatal, new
born and adult stages. An example is in the disease Cystic
Fibrosis, if a new born is found to have 2 mutations in the
gene associated with Cystic Fibrosis then the baby is most
likely to have Cystic Fibrosis. The child can then be treated
for the disease, prolonging life.
Doctors can also perform molecular tests of common
inherited heredity cancer such as breast cancer. They can
investigate for specific inherited mutations in the genes which
may increase a persons risk for breast cancer or ovarian
cancer.

3) Antibiotics are biotechnological products that help to fight

against infections caused by bacteria. They are naturally
produced by micro organisms such as fungi, to help fight
against bacterial infections, they are not used to fight against
viral infections. Anti biotics are produced on a large scale by
cultivating and manipulating fungal cells. Methods such as
fermentation are used when producing antibiotics. This
involves isolating the desired microorganism, growing the
culture and refining and isolating the final antibiotic product.
Penicillin is one of the most popular types of antibiotics used
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to treat infections caused by bacteria. It was also the first

antibiotic to be invented, there are now several antibiotics
within the class of Penicillin. Penicillin prevent bacteria from
forming cell walls. If bacteria would form a cell wall, this
would isolate and protect the bacteria allowing it to thrive
causing fatal results. Penicillin burst the cell wall by acting
directly on peptidoglycans, which is an essential structure in
bacterial cells. These create a structure which is mesh like
around the membrane of bacteria cells which increases the
strength of the cell wall. Penicillin blocks the protein strut
that link peptidoglycans together, this prevents bacteria from
closing holes in the cell walls. Water then rushes into the
holes and into the cells causing the bacteria to burst.
Penicillin is used to treat infections such as: streptococci,
Listeria, E.coli, Pneumonia and Meningitis. Amoxicillin is a
type of penicillin used to treat bacterial infections such as
E.coli, Pylori, Streptococcus and Staphylococcus. It also
treats bacterial infections on the skin, throat, nose stomach
and lungs. Before antibiotics were invented many people
died of simple bacterial infections such as strep throat,
surgery was also a very risky procedure. Since the invention
of antibiotics life expectancy has increased. While antibiotics
are fighting to kill of bacterial infections, they cause side
effects to people, such as diarrhea, vomiting and headaches.
As the antibiotic destroys the infections they also cause
damage to the good bacteria in our bodies. It is believed that
it causes damage to the intestinal lining and causes
inflammation. Some doctors will prescribe a probiotic which
are live bacteria and yeast that offer health benefits. This good
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bacteria overpower the harmful bacteria and keep the gut

healthy. Due to the fact that 70% of the immune system is
based in the gut, it is vital to have a healthy digestive system.
Probiotics are important to replace the good bacteria killed off
by antibiotics. It also helps to alleviate some of the side
effects caused by antibiotics.

Gene therapy for Duchenne Muscle Dystrophy:

Dystrophin is a structural protein that maintains the muscle

fibers and protects them from contraction induced damage.
The absence of Dystrophin compromises the stability and
function of muscle fibers, which eventually leads to muscle
degeneration. The Biotechnological industry have been
studying Gene Therapy in order to treat Duchenne Muscle
Dystrophy. A promising treatment has been developed and is
in the clinical trial process. This treatment uses Gene transfer
to restore Dystrophin expression using a safe non-pathogenic
viral vector called Adeno-associated viral vector.
The goal of gene therapy for Duchenne muscle dystrophy is
to introduce a smaller but efficient version of dystrophin to
muscle cells. This gene therapy product has been called:
PF-06939926
Adeno-associated virus Serotype 9 (AAV9). Because human
dystrophin gene is too large to fit into the AAV9 capsid, a
mini-dystrophin was developed that may help with muscle
function. which carries a shortened version of the human
dystrophin gene (mini-dystrophin)
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Homeopathy

Homeopathy is the medical system based on the belief that

the body can heal itself. Homeopaths use tiny amounts of
natural substances to stimulate the healing process.
Homeopathy comes from the Greek word “like” and
“suffering” this means that a homeopath believes that
substances in large doses cause certain symptoms, in small
doses it can cure symptoms. Homeopaths use herbs, plants ,
minerals and substances such as venom from snakes in their
remedies. They are largely diluted in a process called
potentization. Homeopaths treat a person as a whole, rather
than just symptoms. Interviews with a homeopath can often
take very long because they will assess a persons personality
trait, behavioral and physical symptoms, they will also look
deeper into a persons personal life and history in order to treat
them holistically.

Homeopathic treatment for Duchenne Muscular

Dystrophy:
Arnica oil: for the relief of muscle pain and spasm
Calcarea Carbonica: for cramps of lower extremities
Magnesia Phos: for muscle pain and spasm with cramps, and
severe shooting pains.

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Regular massages: to help reduce spasm and muscular

contractions.

A Homeopath may also prescribe the following nutritional

deficiency supplements:

Omega 3 fatty acids: to reduce inflammation and improve

immunity

Multivitamin daily: to assist with daily vitamin intake

Calcium and Vitamin D Supplements: To support skeletal and

muscular support.

Coenzyme Q10: Antioxidant, immune and muscular support.

Acetyle-L-Carnitine: for Antioxidant, and muscular

protection

Amino Acids such as Glutamine: For muscle protection.

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Bibliography

1)Augustyn.A (2022) Britannica.

Biotechnology
https://www.britannica.com/science/tissue-engineering
(Accessed: 25/07/2022)

2)Biology LibreTexts (2022)

17.1H Production of vaccines, Antibiotics and Hormones
https://bio.libretexts.org/Bookshelves/Introductory_and_Gen
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20cells.
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2)Cleveland Clinic (2022) Muscular Dystrophy

https://my.clevelandclinic.org/health/diseases/14128-
muscular-dystrophy
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3) Dr Stephens.K (2022)
What are Probiotics
https://www.optibacprobiotics.com/learning-lab/
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about/probiotics/what-are-probiotics
(Accessed: 3/08/2022)

4)Gene Therapy net.com (2022)

Diseases treated by Gene therapy
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4)Hamilton.J (2020) NPR

A boy with Muscular Dystrophy was headed for a wheelchair.
Then Gene Therapy arrived.
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2020/07/27/893289171/a-boy-with-muscular-dystrophy-was-
headed-for-a-wheelchair-then-gene-therapy-arri
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5)Kagan.J (2022) Investopedia

Biotechnology
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6)Mayo Clinic (2017)

Gene Therapy
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https://www.mayoclinic.org/tests-procedures/gene-therapy/
about/pac-20384619
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7)Mayo Clinic (2022)

Gene Therapy
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Mayo Clinic (2022)

Muscular Dystrophy
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dystrophy/symptoms-causes/syc-20375388
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8)Medline Plus (2022)

What is Gene Therapy
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9)Medline plus (2022)

Antibiotics
https://medlineplus.gov/antibiotics.html
(Accessed on 3/07/2022)

10)Martal.J & Lovering.C (2021) Healthline

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What you need to know about Muscular Dystrophy

https://www.healthline.com/health/muscular-
dystrophy#:~:text=What%20is%20muscular%20dystrophy
%3F,necessary%20for%20typical%20muscle%20function.
(Accessed: 25/07/2022)

11)Muscular Dystrophy Association (2022)

Duchenne Muscular Dystrophy (DMD)
https://www.mda.org/disease/duchenne-muscular-
dystrophy#:~:text=Duchenne%20muscular%20dystrophy
%20(DMD)%20is,four%20conditions%20known%20as
%20dystrophinopathies.
(Accessed: 26/07/2022)

12)Neurol.P (2014) National Library of Medicine

Gene Therapy for Muscle Dystrophy: moving the field
forward
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13)Newman .T (2018) Medical News Today

How do Penicilins work
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text=Share%20on%20Pinterest%20Penicillins
%20work,structural%20role%20in%20bacterial%20cells.
(Accessed: 30/07/2022)

14)Oiseth.S & Jones.L & Maza.E (2022) Lecturio

Duchenne Muscle Dystrophy
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https://www.lecturio.com/concepts/duchenne-muscular-
dystrophy/
(Accessed: 26/07/2022)

15)Parent Project Muscular Dystrophy (2022)

What is Duchenne? Types of mutations

https://www.parentprojectmd.org/about-duchenne/what-is-
duchenne/types-of-mutations/
(Accessed: 25/07/2022)

16)Pfizer (2020) Pfizers new phase 1b results of gene

therapy in Ambulatory boys with Duchenne Muscle
Dystrophy.
https://www.pfizer.com/news/press-release/press-release-
detail/pfizers-new-phase-1b-results-gene-therapy-ambulatory-
boys
(Accessed: 30/07/2022)

17)Puch.V.Pham (2018) Science Direct

Chapter 19- Medical Biotechnology Techniques and
Applications
https://www.sciencedirect.com/science/article/pii/
B9780128046593000191
(Accessed: 27/07/2022)

18)Single Care (2022)

What is Amoxicillin: uses, warnings and interactions
https://www.singlecare.com/prescription/amoxicillin/what-is
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(Accessed: 3/08/2022)

19)St.Lukes Hospital (2014)

Complementary & alternative medicine
https://www.stlukes-stl.com/health-content/medicine/
33/000113.htm
(Accessed: 27/02/2022)

20)Takeda.S & Clemens.R.P & Hoffman.P.E (2021)

Exon Skipping in Duchenne Muscular Dystrophy
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC867353
4/
(Accessed: 30/07/2022)

Figure 1 :
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Figure 2

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Front cover Logo

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Joshua Donald 10R