BIOLOGY INVESTIGATORY

PROJECT

GENETIC
DISEASES
(2022-2023)

Project submitted to: Project submitted by:

Meenakshi Ma'am Zainab Naeema
XII B
CBSE Roll No:
 ACKNOWLEDGEMENT

I would like to express my special thanks of gratitude to my teacher

Mrs.Meenakshi and lab assistant Mrs. Shajitha , who gave me the
opportunity to do this investigatory project on "Genetic Diseases",
who also helped me in completing my project. I have taken efforts
in this project. However, it would not have been possible without
the kind support and help of many individuals. I came to gain new
interesting knowledge and I’m really thankful for it. Secondly, I
would like to thank my parents and friends who helped me in
finalizing this project within the limited time frame.
 INDEX

SL NO Content Page No

1. Introduction 1
2. Genetic diseases 2
3. Common genetic 2-7
disorders
4. Conclusion 8
5. Bibliography 9
 OBJECTIVE

o To study about types of genetic diseases.

o To learn about genetic disorder.
o Symptoms of the disease.
o Common genetic disorder.
o To prevent the disease.
o Improve life quality.
 INTRODUCTION
Genetic disorder as the word indicates it occurs when detrimental
changes takes place in genes. Sometimes you might inherit
mutation from parent gene or sometimes due to DNA error. It
occurs when a person has one or more abnormal genes, missing
genes, extra genes, inactivated genes, or overly active genes that
lead to a medical condition. Change in gene or genes is known as
mutation which changes the instructions for making a protein,
whereas the protein won't work properly or is entirely missing
which can cause a medical condition called genetic disorder.

There are three major types of genetic diseases:

Ø Single-gene disorder: Mutation affects only one gene.(e.g.
Sickle cell anemia)
Ø Chromosomal disorder: In this condition, people are missing a
gene or have duplicated chromosome material.(e.g. Down
syndrome)
Ø Complex disorder: Mutation affect two or more genes.(e.g.
Cancer)

Not all birth defect can be prevented but women can improve the
chances of having a healthy baby by adopting healthy habits while
on pregnancy. Avoiding harmful substances like alcohol, smoking
and exposure to harmful chemicals can be helpful for the fetus.
Frequent visit to the doctor is considered beneficial to identify any
disorder and treat it as soon as possible. Having a healthy diet by
including fruits, vegetables, low fat and proteins also by being
physically active without exceeding the limit are some of the ways
how a pregnant women can prevent the disorder as prevention is
better than cure.

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 GENETIC DISEASES

Genetic disorder are caused by mutations. Mutation is any type of

change in genetic material.

GENE MUTATION
There are two types of gene mutation:
1.Acquired mutations: Occurs after birth which can be caused by
environmental factors like UV radiation. Acquired mutation cannot
be passed on from one generation to the next generation.
2.Hereditary mutations: Occurs only if the parent carries a gene
mutation in their egg or sperm. Hereditary mutation can be passed on
to the next generation.

COMMON GENETIC DISORDERS

Chromosomal disorders:
• Down syndrome:
It is a condition in which a person has an extra chromosome.
Down syndrome remains the most common chromosomal disease.

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The extra chromosome 21 leads to the physical features and
developmental challenges that can occur among people with Down
syndrome. One factor among other unknown factor that increases the
risk of having a baby with Down syndrome is the mother's age.
Women who are 35 years or older are more likely to have a baby
with this disorder. However, majority of the babies with Down
syndrome are born to mothers less than 35 years old because there
are many more birth in younger women. The two basic tests to detect
down syndrome is screening tests and diagnostic tests. Many people
with Down syndrome have hearing loss, eye disease and eye
infection.

• Klinefelter syndrome:
It is a genetic condition that results when a boy is born with extra
copy of the X chromosome. It is a genetic condition affecting male
and it is often not diagnosed until adulthood.

It may affect testicular growth, resulting in smaller than normal

testicles, which can lead to lower production of testosterone. The
syndrome may also cause reduced muscle mass, reduced body and
facial hair, and enlarged breast tissues. The effects can vary and not
everyone will have the same symptoms or signs. It can increase the
risk of anxiety, depression, infertility, heart and blood disease, lung
disease, metabolic syndrome, tooth and oral problem, autism
spectrum disorder.

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Single-gene disorder:
• Cystic fibrosis:
It is an inherited condition that causes sticky mucus to build up in
the lungs and digestive system. This causes lung infections and
problems with digesting food. The mucus also clogs the pancreas,
which stops enzymes reaching food in the gut and helping digestion.

Symptoms usually start in early childhood and vary from child to

child, but the condition gets slowly worse overtime, with the lungs
and digestive system becoming increasingly damaged. Treatments
are available to help reduce the problem caused by the condition and
make it easier to live with, but sadly no cure. The symptoms include
diarrhoea, jaundice, coughing, shortness of breath.

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• Sickle cell disease:
Sickle Cell Anemia is a form of inherited blood disorder, sickle cell
disease. It affects our RBC, turning them from round flexible discs
into stiff and sticky sickled cells.

Sickled cells keep red blood cells from doing their job, which is
carrying oxygen throughout your body. In the past, sickle cell
anemia rarely lived to be adults. Now, thanks to the early detection
and new treatments, about half of all people who have sickle cell
anemia live into their 50s.
Babies born with sickle cell anemia may not have symptoms for
several months but when they do, symptoms include extreme
tiredness from anemia, painfully swollen hands and feet, and
jaundice. People with sickle cell anemia inherit the disease from
their biological parents.

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Complex disorder
• Cancer:
It occurs when normal cells become cancerous cells that
multiply and spread. Early detection and innovation treatments are
curing cancer and helping people with cancer live longer. Normal
cells follows instruction given by genes whereas cancerous cell
ignore the rules that normal cell follow.

Cancer starts when a gene or several genes mutate and create

cancerous cells. Breast cancer is the most common cancer. Almost
anyone may develop cancer but it can vary based on race and sex.
Cancer is a complicated disease you can have cancer for years
without any symptoms. Unexplained weight loss, difficulty
breathing, difficulty swallowing, bruising or bleeding more
easily, chronic tiredness, fever that mostly occurs at night might be
symptoms of cancer but not a definite symptoms.

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• Diabetes:
Diabetes happens when your body isn't able to take up sugar
into its cells and use it for energy. This results in a buildup of extra
sugar in your bloodstream. Mismanagement of diabetes can lead to
serious consequences, causing damage to a wide range of your
body's organs and tissues including your heart, kidneys, eyes and
nerves. Mostly diabetes occurs if there is a family history of Type
1 diabetes, injury to pancreas, presence of autoantibodies,
physical stress, exposure to illness caused by viruses.

Symptoms includes increased thirst, weak or tired feeling, blurred

vision, numbness or tingling in the hands or feet, dry mouth.
Diabetes is diagnosed and managed by checking your glucose level
in a blood test. Transplantation can be a treatment option for
diabetes.

Therefore, genetic diseases can be both acquired or inherited. If a

person has only one gene for a disorder they are known as a carrier,
they are often unaware about it nor do they show any symptoms. But
they capable of passing it down to their offspring. Genetic disorder
also causes rare diseases, there are thousands of genetic diseases
which includes mitochondrial diseases, usher syndrome, Ehlers-
Danlos syndrome, etc. And most of the genetic disorder does not
have any cure but can be dealt with treatments for the time being.

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 CONCLUSION

We have learned that there are number of genetic disorders that can
affect the human population which can vary in characteristics and
treatments. I would like to conclude my project by saying that the
intention of this project was to encourage the growth of research on
the impact of interaction among social, behavioral, and genetic
factors on health that will further our understanding of disease risk
and aid in the development of individuals and populations. It is
important as it sets out an agenda for research that is needed to
advance the science. Genetic counseling helps the affected
individual to educate and cope with the disorder with minimal
clinical problem. Thorough knowledge of the disease for giving
information regarding the cause and risk factor of the disease is
necessary before counseling.

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 BIBLIOGRAPHY

q https://www.ncbi.nlm.nih.gov/books/NBK19915/

q https://my.clevelandclinic.org/health/diseases/12194/

q https://www.mayoclinic.org/diseases-
conditions/20353949/

q https://my.clevelandclinic.org/health/diseases/21751/