PAPER ASSIGNMENT

GENETIC DISEASES AND DISORDERS

Group 6 Class 1B :
1. Aditya Dida Putra (241110084) 7. M. Ihsan Al M. (241110106)
2. Afifturrahman (241110085) 8. Mona Fauzia (241110105)
3. Arsyada Adi I.A (241110088) 9. Nadirah Putri S. (241110110)
4. Ghira Septi A. (241110097) 10. Nazalil Furqani (241110111)
5. Hanabil Harham (241110098) 11. Nurhayani (241110112)
6. Haura Maharani S. (241110099)

Lecturer :
Jamaris, S.Si, M.Si

Environment Sanitation

KEMENKES POLTEKKES PADANG

MINISTRY OF HEALTH OF THE REPUBLIC OF INDONESIA

2024/2025
 FOREWORD

Bismillahirrahmanirrahim.

Praise be to ALLAH Subhanawata’ala Almighty for all His mercy and

grace, so that we can complete this paper with the title "Genetic Diseases." This
paper was prepared as an effort to understand more about genetic diseases, which
are one of the most important branches of medical science in the world of health.

Genetic diseases, which are caused by changes or mutations in genetic

material, have a significant impact on the individuals who suffer from them. The
study of genetic diseases not only broadens our insight into their causes and
mechanisms, but also provides guidance in diagnosis, treatment and prevention.
This knowledge is crucial, both for the development of new therapies and for
improving the quality of life of patients affected by genetic diseases.

In this paper, we discuss different types of genetic diseases, including

autosomal dominant and recessive inherited diseases, and chromosomal disorders.
In addition, we also discuss the latest diagnostic methods and advances in genetics
research that provide new hope for patients and their families.

We realize that the preparation of this paper cannot be separated from the
help of various parties. For this reason, we would like to thank Jamaris, S.Si, M.Si
for the guidance and support provided during the writing process. We also
appreciate the literature sources that were very helpful in the preparation of this
paper.

Wassalamu'alaikum Wr. Wb.

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 TABLE OF CONTENTS

No.

Foreword ........................................................................................................(1)

Table of Contents ...........................................................................................(2)

BAB I : Introduction .....................................................................................(3)

A. Background ..........................................................................................(3)
B. Problem Formulation ...........................................................................(4)

BAB II : Discussion ........................................................................................(5)

A. Definition of genetic diseases ..............................................................(5)

B. Types of genetic disease ......................................................................(5)
C. Examples of genetic diseases ...............................................................(6)

BAB III : Closing ...........................................................................................(7)

A. Conclusion ...........................................................................................(7)
B. Opinion ................................................................................................(7)
Literature ........................................................................................................(9)

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 BAB I

INTRODUCTION

1.1 Background
Genetic diseases are health disorders caused by alterations or mutations in
an individual’s genetic material. Genes, which are the units of hereditary
information, play a crucial role in the development and functioning of the
human body. When mutations occur in genes, they can disrupt normal
functions and result in a variety of diseases or health conditions that can
impact an individual’s quality of life.
Generally, genetic diseases can be classified into several types, including
recessive, dominant, and sex-linked genetic disorders. Recessive genetic
diseases, such as cystic fibrosis and thalassemia, manifest only when an
individual inherits two copies of the mutated gene. In contrast, dominant
diseases, like Huntington’s disease and Marfan syndrome, can appear when an
individual inherits just one copy of the mutated gene. Additionally, some
genetic diseases are associated with sex chromosomes, such as hemophilia and
Duchenne muscular dystrophy, which are more commonly seen in males.
Understanding genetic diseases is crucial not only for effective diagnosis
and treatment but also for prevention and management efforts. Advances in
genetic technology, such as DNA analysis and gene therapy, offer significant
potential for early diagnosis and more targeted interventions. Despite the
ongoing challenges in managing genetic disorders, evolving knowledge and
research provide new hope for improving the quality of life for patients and
their families.
This paper will explore various types of genetic diseases, their causes and
mechanisms, as well as advancements in diagnosis and treatment. By delving
into these aspects, it is hoped that we can better address the challenges faced
by individuals affected by genetic diseases and society as a whole.

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1.2 Problem Formulation
In this paper we will discuss some of the outcomes, namely:
1. Definition of genetic diseases
2. Types of genetic disease
3. Examples of genetic diseases

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 BAB 2

DISCUSSION

2.1 Definition of Genetic Diseases

A genetic disease is a condition of altered traits and components in
genes that cause disease due to disruptions in many systems in the body.
These disorders occur due to new mutations in the DNA inherited from
parents.
Genetic diseases or genetic disorders can lead to certain conditions,
such as physical and mental abnormalities, even to diseases such as cancer.
However, this does not mean that all cancers occur due to genetic
disorders, some also occur due to the environment and poor lifestyle.

2.2 Types of genetic disease

Genetic diseases can be broadly categorized into several types based on
their inheritance patterns and the nature of the genetic mutations:
1. Autosomal Recessive Diseases: These diseases occur when an
individual inherits two copies of a mutated gene, one from each
parent. The disorder manifests only if both gene copies are defective.
Examples include cystic fibrosis and sickle cell anemia.
2. Autosomal Dominant Diseases: These disorders arise when an
individual inherits one copy of a mutated gene from either parent. A
single defective gene copy is sufficient to cause the disease. Examples
include Huntington's disease and Marfan syndrome.
3. X-linked Diseases: These are associated with mutations on the X
chromosome. They predominantly affect males, as they have only one
X chromosome. Females, with two X chromosomes, are often carriers
but may not exhibit symptoms. Examples include hemophilia and
Duchenne muscular dystrophy.
4. Mitochondrial Diseases: These diseases result from mutations in the
mitochondrial DNA, which is inherited maternally. Mitochondrial
diseases can affect various systems in the body, such as the muscular

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 and nervous systems. Examples include Leber's hereditary optic
neuropathy and mitochondrial myopathy.

2.3 Examples of genetic diseases

Here are some notable examples of genetic diseases across different
categories:
1. Cystic Fibrosis: An autosomal recessive disorder caused by mutations
in the CFTR gene, leading to severe respiratory and digestive
problems due to thick mucus buildup.
2. Huntington's Disease: An autosomal dominant disorder caused by
mutations in the HTT gene, resulting in progressive
neurodegeneration and movement disorders.
3. Hemophilia: An X-linked recessive disorder characterized by
difficulty in blood clotting due to deficiencies in clotting factors,
leading to excessive bleeding and easy bruising.
4. Duchenne Muscular Dystrophy: An X-linked recessive disorder
caused by mutations in the dystrophin gene, leading to progressive
muscle degeneration and weakness.
5. Leber’s Hereditary Optic Neuropathy: A mitochondrial disorder that
results in rapid loss of vision due to degeneration of the optic nerve.

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 BAB 3

CLOSING

3.1 Conclusion
Genetic diseases are a diverse group of disorders caused by
abnormalities in the genetic material, leading to disruptions in normal
gene function and various health issues. They can be categorized into
several types based on inheritance patterns, including autosomal
recessive, autosomal dominant, X-linked, and mitochondrial diseases.
Each type has unique characteristics and implications for diagnosis and
treatment.
Understanding the definition, types, and examples of genetic
diseases is crucial for advancing medical knowledge and improving
patient care. With continued advancements in genetic research and
technology, including diagnostic tools and therapeutic approaches,
there is significant potential to enhance early detection, management,
and treatment of these conditions. Addressing the challenges
associated with genetic diseases not only helps in mitigating their
impact on individuals and families but also contributes to broader
public health efforts.
Ultimately, ongoing research and development in the field of
genetics hold promise for more effective interventions and a better
quality of life for those affected by genetic disorders.

3.2 Opinoin
Genetic diseases pose a significant challenge in the fields of public
health and medicine. Despite advances in technology and research,
genetic disorders continue to be a major cause of morbidity and
mortality worldwide. Therefore, education and awareness are essential
in tackling these conditions.
Education about genetic diseases should start early, both in schools
and through public health programs. By understanding the basics of
genetics and how genetic diseases can be inherited, individuals can

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make better decisions regarding their health and that of their families.
For example, understanding specific genetic disorders can encourage
couples to seek genetic counseling before planning a pregnancy,
enabling them to assess risks and take necessary preventative
measures.
Moreover, public awareness about genetic diseases can help reduce
the stigma often associated with these conditions. Many individuals
with genetic disorders face social and psychological isolation, which
can further impact their quality of life. By increasing public
understanding and educating society about the scientific facts behind
genetic diseases, we can reduce prejudice and create a more inclusive
and supportive environment for those affected.
In addition, heightened awareness contributes to support for
research and the development of new therapies. When the public is
more aware of the impact of genetic diseases, there is greater impetus
for investment in research and innovative treatments. This can
accelerate scientific progress and improve health outcomes for
individuals with genetic conditions.
Overall, education and awareness are key in addressing the
challenges posed by genetic diseases. Through consistent efforts in
these areas, we can not only improve the quality of life for affected
individuals but also strengthen the healthcare system and drive
important scientific advancements. Therefore, it is crucial for
governments, educational institutions, and community organizations to
collaborate in promoting a better understanding of genetic diseases and
their impacts.

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 LITERATURE
professional, C. C. medical. (n.d.). Genetic Disorders: What Are They, Types,
Symptoms & Causes. Retrieved from click here
Kelainan Genetik. (2024). Retrieved from click here

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