Inherited Disease

Name: Raimna Khan
Roll No: BZO-F23-M06

Class: 6th (SS)
Subject: Genetics
Topic: Inherited Disease
Department: Zoology
Date: 24_6_2024
Submit to: Sir Muhammad Irfan
Table of content
Introduction --------------------------------------------1
Content---------------------------------------------------2_3
Inherited Disease ----------------------------------------4
i) What is inherited disease?
ii) Genetic disorder can be:------------------------------5
a) Chromosomal
b) Complex ( Multifactorial )
iii) What are common genetic disorder------------------5-6
a) Chromosomal disorder
b) Multifactorial
c) Cystic Fibrosis
iv) Are there other types of genetic disorder?----------------7
v) Rare genetic disorder include:
Symptoms and causes ------------------------7-8
i) What are cause and Symptoms of genetic disorder?
Diagnosis and test
Family History -----------------9
Management and treatment ---------------------
Medication ----------------------10
Reference Link -----------------10
Inherited Disease
What is inherited disease ?
Genetic disorders occur when a mutation affects your genes. Carrying the mutation doesn’t
always mean you’ll end up with a disease. There are many types, including single-gene,
multifactorial and chromosomal disorders.when a mutation (a harmful change to a gene, also
known as a pathogenic variant) affects your genes or when you have the wrong amount of
genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for
cell functioning and the characteristics that make you unique. You receive half your genes from
each biological parent and may inherit a gene mutation from one parent or both. Sometimes
genes change due to issues within the DNA (mutations). This can raise your risk of having a
genetic disorder. Some cause symptoms at birth, while others develop over time.
Genetic disorders can be:

Chromosomal: This type affects the structures that hold your genes/DNA within each cell
chromosomes). With these conditions, people are missing or have duplicated chromosome
Material. Complex (multifactorial): These disorders stem from a combination of gene

mutations and other factors. They include chemical exposure, diet, certain medications and
tobacco or alcohol use. Single-gene (monogenic): This group of conditions occurs from a single
gene mutation.
What are common genetic disorders?

There are many types. They include:
Chromosomal disorders
 Down syndrome (Trisomy)
 FragileX syndrome
 Klinefelter syndrome
 Triple-X syndrome
Multifactorial disorders:
•Late-onset Alzheimer’s disease
•Arthritis
•Autism spectrum disorder, in most cases
•Cancer, in most cases
•Coronary artery disease
•Diabetes
•Migraine headaches
•Spina bifida
•Isolated congenital heart defects
•Monogenic disorders
Cystic Fibrosis:
•Deafness that’s present at birth (congenital)
•Duchenne muscular dystrophy •Familial hypercholesterolemia, a type of high cholesterol
disease
•Hemochromatosis (iron overload) •Neurofibromatosis type 1 (NF1) •Sickle cell disease •Tay-
Sachs disease
Are there other types of genetic disorders?

Genetic disorders may also cause rare diseases. This group of conditions affects fewer than
200,000 people in the U.S. According to experts, there may be as many as 7,000 of these
diseases.
Rare genetic disorders include:
•AA amyloidosis •Adrenoleukodystrophy (ALD) •Ehlers-Danlos syndrome
Mitochondrial diseases.
•Usher syndrome
Symptoms and Causes

What are the causes of genetic disorders?
To understand genetic disorder causes, it’s helpful to learn more about how your genes and
DNA work. Most of the DNA in your genes instructs the body to make proteins. These proteins
Start complex cell interactions that help you stay healthy. When a mutation occurs, it affects the
genes’ protein-making instructions. There could be missing proteins. Or the ones you have do not
function properly.
Environmental factors (also called mutagens) that could lead to a genetic

mutation include:
•Chemical exposure.
•Radiation exposure.
•Smoking.
•UV exposure from the sun.
What are the symptoms of genetic disorders?

Symptoms vary depending on the type of disorder, organs affected and how severe it is. You may
Experience: •Behavioral changes or disturbances.
•Breathing problems.
•Cognitive deficits, when the brain can’t process information as it should.
•Developmental delays that include challenges with speech or social skills.
•Eating and digestive issues, such as difficulty swallowing or an inability to process
nutrients.
•Limb or facial anomalies, which include missing fingers or a cleft lip and palate.
•Movement disorders due to muscle stiffness or weakness.
•Neurological issues such as seizures or stroke.
•Poor growth or short stature.
Diagnosis and Tests

How are genetic disorders identified?
If you have a family history of a genetic disorder, you may wish to consider genetic counseling
to see if genetic testing is appropriate for you. Lab tests can typically show whether you have
genE mutations responsible for that condition. In many cases, carrying the mutation does not
always mean you’ll end up with it. Genetic counselors can explain your risk and if there are steps
you can take to protect your health. If there’s a family history, DNA testing for genetic disorders
can be an important part of starting a family. Options include:
Carrier testing: This blood test shows whether you or your partner carry a mutation linked to
Genetic disorders. This is recommended for everyone considering pregnancy, even if there is
no family history
Prenatal screening: This testing usually involves blood testing from a pregnant person that
tells them how likely it is that a fetus could have a common chromosome condition. Prenatal
diagnostic testing: You can find out whether the developing fetus faces a higher risk for certain
genetic disorders. Prenatal testing uses a sample of fluid from your uterus (amniocentesis).
Newborn screening: This test uses a sample of your newborn baby’s blood and is performed on
all babies born in Ohio. Detecting genetic disorders early in life can help your child receive
timely care if needed.
Management and Treatment

What is treatment for genetic disorders like?
Most genetic disorders do not have a cure. Some have treatments that may slow disease
progression or lessen their impact on your life. The type of treatment that’s right for you depends
on the type and severity of the disease. With others, we may not have treatment but we can
prvide medical surveillance to try to catch complications early.
You may need:

•Medications to manage symptoms or chemotherapy to slow abnormal cell growth.
•Nutrition counseling or dietary supplements to help you get the nutrients your body needs.
•Physical, occupational or speech therapy to maximize your abilities.
•Blood transfusion to restore levels of healthy blood cells.
•Surgery to repair abnormal structures or treat complications.
•Specialized treatments, such as radiation therapy for cancer.
•Organ transplant, which is a procedure to replace a nonfunctioning organ with one from a
healthy donor
Reference Link
https://my.clevelandclinic.

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Name: Raimna Khan

Roll No: BZO-F23-M06

Genetic disorders can be:

Material. Complex (multifactorial): These disorders stem from a combination of gene

What are common genetic disorders?

Are there other types of genetic disorders?

Symptoms and Causes

Environmental factors (also called mutagens) that could lead to a genetic

What are the symptoms of genetic disorders?

Diagnosis and Tests

Management and Treatment

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