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INVESTIGATORY PROJECT
BIOLOGY
SESSION 2019-20
TOPIC: GENETIC DISORDERS

Project by: NEHA PRINCE


GUIDED BY: VED JHA SIR

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Index
1 INTRODUCTION PG 5
2 HISTORY PG 6
3 GENETIC DISORDERS PG 7
4 VON WILLEBRAND DISEASE PG 8
5 CYSTIC FIBROSIS PG 9
6 HUNTINGTON’S DISEASE PG 11
7 ALS PG 13
8 RECENT RESEARCHES ON ARTICLE PG 15
9 CONCLUSIONS PG 17
10 BIBLIOGRAPHY PG 18

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INTRODUCTION

Genes are the building blocks of heredity. They are passed from parent to
child. They hold DNA, the instructions for making proteins. Proteins do
most of the work in cells. They move molecules from one place to
another, build structures, break down toxins, and do many other
maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation


changes the gene's instructions for making a protein, so the protein does
not work properly or is missing entirely. This can cause a medical
condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation
can also happen during your lifetime.

There are three types of genetic disorders:

 Single-gene disorders, where a mutation affects one gene. Sickle cell


anemia is an example.
 Chromosomal disorders, where chromosomes (or parts of chromosomes)
are missing or changed. Chromosomes are the structures that hold our
genes. Down syndrome is a chromosomal disorder.
 Complex disorders, where there are mutations in two or more genes.
Often your lifestyle and environment also play a role. Colon cancer is an
example. Genetic tests on blood and other tissue can identify genetic
disorders.

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History
First there was Gregor Mendel, a monk who studied inherited
characteristics. This was followed by Francis crick and James Watson who
unraveled the DNA molecule. This has led us to understanding the
human genome sequence
Gregor Mendel 1866 published the results of his investigations of the
inheritance of "factors" in pea plants.
Rosalind Franklin 1950's. Maurice Wilkins (1916- ), Rosalind Franklin
(1920- 1957), Francis H. C. Crick (1916- ) of Britain and James D.
Watson (1928- ) of the U.S. Discover chemical structure of DNA, starting
a new branch of science--molecular biology.
Watson and Crick made a model of the DNA molecule and proved that
genes determine heredity.

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Genetic disorders
A genetic disorder is a condition that is caused by an abnormality in an
individual's DNA. Abnormalities can be as small as a single-base mutation
in just one gene, or they can involve the addition or subtraction of entire
chromosomes.
As we unlock the secrets of the human genome (the complete set of
human genes), we are learning that nearly all diseases have a genetic
component. Some diseases are caused by mutations that are inherited
from the parents and are present in an individual at birth, like sickle cell
disease. Other diseases are caused by acquired mutations in a gene or
group of genes that occur during a person's life. Such mutations are not
inherited from a parent, but occur either randomly or due to some
environmental exposure (such as cigarette smoke). These include many
cancers, as well as some forms of neurofibromatosis.

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Von Willebrand disease:


 An inherited bleeding disorder that results from low levels of
specific clotting protein in blood.
 Common (More than 10 lakh cases per year in India).
 Treatment from medical professional advised.
 Requires lab test or imaging.
 Can last several years or be lifelong.
 May be dangerous or life threatening.
 Family history may increase likelihood.
 Emergency room visit recommended in severe cases.
Symptoms:
Major symptom is abnormal bleeding. Most of the time it is mild and
severity varies depending on the type of the condition. The most common
symptoms are:
 Abnormal bleeding after an injury, dental cleaning or surgery
 Nose bleeding which last longer
 Heavy menstrual bleeding
 Blood in urine or stool
 Easy bruising

Diagnosis:
 Diagnosis involves
evaluating medical history and
checking for bruises or other
bleeding sign
TREATMENT:
 Non-replacement
therapy: Stimulates the body to
release von Willebrand disease e.g. desmoprsin

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CYSTIC FIBROSIS:
Cystic fibrosis is an inherited disorder that causes severe damage to the
lungs and digestive system. Cystic fibrosis is also known as mucoviscidosis.
It is an inherited disorder which causes severe damage to the lungs,
digestive system, and other organs in the body. Mucoviscidosis affects the
cells which produce mucus, sweat, and digestive juices. These secreted
fluids are normally thin and slippery.
SYMPTOMS:
The most common symptoms of cystic fibrosis are:

 Salty-tasting skin, which parents notice when they kiss their child
 Frequent coughing, wheezing, or bouts of pneumonia or sinusitis
 Difficulty breathing that keeps getting worse
 Big appetite but poor weight gain
 Bulky, smelly, greasy bowel movements

Diagnosis:
Immunoreactive trypsinogen in
blood: To monitor the levels of
Immunoreactive trypsinogen in
the blood of newborn
Sweat test: Performed by
placing a sweat inducing
chemical in the body to check
the salt content.
Genetic test: Genetic screening
test for defective gene mutation

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Treatment:
Medication:
Antibiotics: Given in the form of inhaled therapy to improve lung
function by impeding growth of bacteria.
Tobramycin

Anti-inflammatory drugs: To prevent inflammation in the airway passage.


Ibuprofen

Mucus thinners: To help patients cough up mucus and improve lung


function.
Acetylcysteine

Brochiodialators: To open up and relax muscles around the brochia


(lungs).
Albuterol .

Therapy:
Enzyme replacement therapy: Oral pancreatic enzymes such as lipase,
protease, amylase to help in the absorption of nutrients in the digestive
tract.
Chest physical therapy: To help loosen mucus. A common technique is
clapping with cupped hands on the front and back of the chest.

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HUNTINGTON’S DISEASE:
Huntington's disease is an inherited disease that causes the progressive
breakdown (degeneration) of nerve cells in the brain. Huntington's disease
has a broad impact on a person's functional abilities and usually results in
movement, thinking (cognitive) and psychiatric disorders.

Most people with Huntington's disease develop signs and symptoms in


their 30s or 40s. But the disease may emerge earlier or later in life.

When the disease develops before age 20, the condition is called juvenile
Huntington's disease. An earlier emergence of the disease often results in
a somewhat different set of symptoms and faster disease progression.

Medications are available to help manage the symptoms of Huntington's


disease, but treatments can't prevent the physical, mental and behavioral
decline associated with the condition.

SYMPTOMS:
Huntington’s disease causes movement,
cognitive, and psychiatric disorders, with
symptoms widely varying between
individuals.
Movement disorders:
 Chorea - Involuntary jerking or writhing
movements
 Tremors

Cognitive disorders
 Problems with organizing, prioritizing, or retaining focus on tasks
 Getting stuck on thoughts, behavior, or action
 Lack of control over impulses

Psychiatric disorders
 Depression and/or mania, irritability , social withdrawal , insomnia etc

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Diagnosis:
Neurological examination: - Reflexes - Muscle tone and strength - Balance
and coordination - Hearing and vision - Sense of touch
Psychological examination: - Memory and reasoning - Language - Mental
agility - Ability to judge - Emotional state - Substance abuse

Treatment:
Monoamine depletors: Drugs to treat involuntary and writhing
movements.
Tetrabenazine . Amantadine

Antidepressants: Antidepressants to treat depression.


Fluoxetine . Sertraline

Antipsychotic drugs: Antipsychotic drugs to reduce symptoms of mood


disorders and psychosis.
Quetiapine . Risperidone .

Mood stabilisers: Mood-stabilizing drugs to manage symptoms of bipolar


disorder.
Carbamazepine

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ALS:
ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative
disease that affects nerve cells in the brain and the spinal cord. A-myo-
trophic comes from the Greek language. "A" means no. "Myo" refers to
muscle, and "Trophic" means nourishment – "No muscle nourishment."
When a muscle has no nourishment, it "atrophies" or wastes away.
"Lateral" identifies the areas in a person's spinal cord where portions of
the nerve cells that signal and control the muscles are located. As this area
degenerates, it leads to scarring or hardening ("sclerosis") in the region

SYMPTOMS:
 Weakness in your leg,
feet or ankles
 Difficulty walking or
doing your normal daily
. activities

 Hand weakness or clumsiness


 Slurred speech or trouble swallowing
 Muscle cramps and twitching in your arms, shoulders, and tongue
 Difficulty holding your head up or keeping good posture
 Tripping and falling

DIAGNOSIS:
Electromyography (EMG) : To check the electrical activity of muscles
when they contract and relax.
Nerve conduction studies : Tests the ability of muscle to send signals to
other parts.
Blood test: Levels of certain chemicals in the blood will be analyzed
Urine test: Helps to rule out other possible causes.
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TREATMENT:
Glutamate antagonist: This drug helps reduce building up of glutamate in
the brain.
Riluzole

Neuroprotective agent: This drug helps to preserve brain functions and


structure.
Edaravone

Physical therapy: Physiotherapist may suggest low-impact exercises which


will help cardiovascular fitness. Therapy may also improve the ability to
walk. Doctor may suggest the use of brace, walker or wheelchair.

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Recent researches on article:


CYSTIC FIBROSIS:
Recent work has presented definitive evidence that the Pseudomonas cells
that infect the lung in cystic fibrosis grow in the biofilm phenotype. These
unequivocal data establish this chronic infection of compromised hosts as
the archetypal biofilm infection, which is both refractory to antibiotic
therapy and barely affected by host defenses.

ALS:
Five such studies, based in Europe and North America, have been
published and show remarkably consistent incidence figures among their
respective Caucasian populations. Population based studies have been
useful in defining clinical characteristics and prognostic indicators in ALS.
However, many epidemiological questions remain that cannot be resolved
by any of the existing population based datasets. The working hypotheses
is that ALS, like other chronic diseases, is a complex genetic condition,
and the relative contributions of individual environmental and genetic
factors are likely to be relatively small. Larger studies are required to
characterize risks and identify subpopulations that might be suitable for
further study.

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HUNTIGTON’S DISEASE:
Due to the nature of the symptoms, the genetic element of the disease,
and the fact that there is no cure, HD patients and those in their support
network often experience considerable stress and anxiety. With an
expansion in Internet access, individuals affected by HD have new
opportunities for information retrieval and social support.

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CONCLUSION:
In conclusion, gene mutation in general causes genetic changes which
can lead to diseases. The three types of Gene mutation: - substitution,
which is the change some nucleotides, the other type is insertion
which is the add of some nucleotides to a gene and final type of
mutation is deletion which is the less of one or more nucleotides in a
gene. All of this types of mutation causes same effect in produce
protein. This effect is loss of stability and expression on protein.
Mutation causes many diseases such as Infertility, muscular atrophy,
Sickle cell anemia, breast cancer, cervical cancer and gastric cancer.

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Bibliography

 PHOTOSOURCE : EXAMFEAR.COM
 MATERIAL SOURCE : NARAYANA MODULE,
GRB BIOLOGY
 RECENT RESEARCH SOURCE: BMJ JOURNALS

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