Decoding Our Genes:

Understanding
Genetic Disorders
Exploring the world of inherited conditions and their
impact
on health

Dr. Rizma Khan

Associate Professor
The Blueprint of Life: Introduction to
Genes
• Genes, made of DNA, carry instructions for our growth and
development. They determine many of our traits.
• Genes are organized into chromosomes, which are passed down
from parents. Humans have 23 pairs.
• Sometimes, changes or mutations occur in genes. Most don't
cause problems, but some lead to genetic disorders.
• Genes can be inherited in different ways: dominant, recessive,
or sex-linked. The inheritance pattern dictates risk.
• Understanding inheritance patterns helps families anticipate
risks and make informed choices about their health.
What are Genetic Disorders?
• Genetic disorders are health conditions resulting from changes in a
person's genes or chromosomes, disrupting normal function.

• Some disorders are inherited from parents, while others arise from
new mutations during conception or early development.

• The severity of genetic disorders varies greatly, ranging from mild to

life-threatening, affecting different body systems.

• It's important to remember that genetic disorders are not

contagious; they are intrinsic to an individual's genetic makeup.

• The core of genetic disorders lies in altered genetic information,

impacting the correct function and development.
Different Types of Genetic Disorders
• Caused by mutations in a single gene. Examples: cystic fibrosis,
sickle cell anemia. Follow specific inheritance patterns.

• Result from changes in the number or structure of chromosomes.

Down syndrome (extra chromosome 21) is an example.

• Arise from a combination of genetic and environmental factors.

Examples: heart disease, diabetes, and many cancers.

• Caused by mutations in the DNA of mitochondria. Affect energy

production in cells and can impact various organ systems.

• Each type presents unique challenges and requires specific

diagnostic and management approaches based on its origin.
Spotting the Signs: Symptoms and Diagnosis

• Symptoms differ widely depending on the specific disorder, affected

genes, and individual factors. Some manifest at birth.

• Developmental delays (e.g., speech, motor skills) can be an

indicator. Early detection is vital.

• Certain physical features or abnormalities might be associated with

specific disorders. Assessment is required.

• Genetic testing (blood tests, amniocentesis) confirms diagnosis.

Analyzing DNA to identify mutations or chromosomal changes.

• Diagnosis involves a combination of clinical evaluation, family

history, and specialized laboratory testing for confirmation
Living with Genetic Disorders: Treatment
and Management
• Many genetic disorders lack a definitive cure. Management focuses
on symptom control, supportive care, and prevention of complications.

• Medications help manage specific symptoms and prevent

complications. Targeted therapies are emerging for certain conditions.

• Physical therapy, occupational therapy, and speech therapy

enhance function and independence for many patients with disorders.

• Support groups and counseling provide emotional and psychological

support for affected individuals and their families.

• A comprehensive approach ensures that individuals with genetic

disorders can live fulfilling lives to the best of their abilities.
The Role of Genetic Counseling
• Genetic counselors provide information about genetic disorders,
inheritance patterns, testing options, and reproductive risks.

• They assess family history to determine the risk of inheriting or

passing on a genetic disorder, providing essential information.

• Counselors discuss available genetic testing options and interpret

results, helping individuals make informed healthcare decisions.

• Counselors offer emotional support and guidance to families coping

with a genetic diagnosis or at risk of having a genetic disorder.

• Genetic counseling plays a vital role in empowering individuals and

families to make informed choices and navigate
Prevention and Screening
• Carrier screening identifies individuals who carry a gene for a
recessive disorder. This allows them to assess risk of having affected
children.

• Prenatal screening during pregnancy assesses the risk of certain

genetic disorders in the fetus, such as Down syndrome.

• PGD is used with in vitro fertilization. It involves testing embryos for

genetic disorders before implantation, to reduce risks.

• Newborn screening tests newborns for certain genetic disorders,

enabling early treatment and prevention of complications.

• Screening and prevention strategies help reduce the impact of

genetic disorders and improve health outcomes for affected
The Future of Genetic Disorder Research
• Gene therapy aims to correct faulty genes by introducing normal
genes into cells. It offers hope for treating inherited disorders.

• Personalized medicine tailors treatment based on an individual's

genetic makeup. This approach is promising for improved outcomes.

• Ongoing research focuses on developing new drugs to target specific

genetic abnormalities and alleviate symptoms.

• Studying the underlying mechanisms of genetic disorders allows

scientists to develop more effective treatment strategies.

• Continued research promises breakthroughs in the management and

treatment of genetic disorders, improving lives around the world.
Hope and Resilience
• Many individuals with genetic disorders lead full and productive
lives. Their determination is truly inspirational.

• Strong community support networks and advocacy groups play a

crucial role in empowering individuals and families.

• These individuals overcome numerous obstacles and demonstrate

remarkable resilience in the face of adversity.

• By raising awareness, we can foster understanding, promote

inclusion, and create a more supportive society for those affected.

• Their stories highlight the strength of the human spirit and inspire
us to embrace diversity and support one another through life's
challenges.
Cystic
Fibrosis
Exploring the complexities of
Cystic Fibrosis, its causes, and
its clinical manifestations.
01
Introduction
Cystic Fibrosis (CF) is a genetic disorder affecting the
lungs and digestive system. This presentation will
provide an overview of the background, clinical
manifestations, diagnosis, and the role of the CFTR
gene.
Definition of
Cystic Fibrosis
Cystic Fibrosis is a hereditary
disorder caused by mutations
in the CFTR gene, which leads
to severe respiratory and
digestive issues due to thick
mucus build-up in various
organs.
Pathophysiology
CFTR Gene Mutation: The most common mutation is the
deletion of three nucleotides leading to the loss of a single
amino acid (phenylalanine) at position 508 of the CFTR
protein, known as F508del. This mutation affects the
protein's folding, transport, and function.
Impaired Ion Transport: In CF, the defective CFTR protein
results in impaired chloride and bicarbonate transport
across epithelial cells. This leads to:
Thick, sticky mucus production in the lungs, pancreas, and
other organs.
Decreased hydration of the airway surface liquid, making
ciliary function less effective, leading to mucus retention
and chronic infection.
Causes and Risk
Factors
Cystic Fibrosis is primarily caused by
mutations in the CFTR gene, inherited in
an autosomal recessive manner. Factors
such as family history, ethnicity (more
common among Caucasians), and
environmental conditions can influence
the incidence of CF.
History and Discovery

Cystic Fibrosis was first described in the

1930s, with significant advancements in
understanding its genetic basis occurring
in the 1980s. The identification of the
CFTR gene in 1989 marked a pivotal
moment in cystic fibrosis research,
leading to improved diagnosis and
treatment options.
02
Clinical
Manifestations
Respiratory Symptoms
Common respiratory symptoms include
chronic cough, frequent lung infections,
wheezing, and difficulty breathing. The
buildup of thick mucus in the lungs
creates an ideal environment for bacteria,
resulting in lung damage over time.
Gastrointestinal Symptoms
Patients with cystic fibrosis often experience
gastrointestinal issues such as poor growth,
weight gain difficulties, and malnutrition due
to the blockage of pancreatic ducts, which
affects digestive enzyme secretion.
Complications
and
Comorbidities
Cystic Fibrosis can lead to
numerous complications,
including diabetes, liver
disease, and osteoporosis. It
also significantly impacts
quality of life and may require
a multidisciplinary approach
for effective management.
 Diagnosis of Cystic
Newborn Fibrosis:
Screening:
In many countries, newborns are screened for CF
through a blood test that measures the level of
immunoreactive trypsinogen (IRT). Elevated
levels may indicate CF or CF carrier status.

If newborn screening suggests CF, genetic

testing can confirm the presence of mutations
in the CFTR gene.
Sweat Chloride Test:
Sweat Chloride Test: This test measures the
amount of chloride in sweat. In CF, the sweat
glands produce sweat that has high levels of
chloride. A sweat chloride level above 60
mmol/L is commonly indicative of CF.he ringed
 Diagnosis of Cystic
Fibrosis:
Pulmonary Function
Tests:
These tests assess lung function and can be
useful for older children and adults in
evaluating disease severity.
Chest X-rays and CT
Scans:studies may be used to assess lung
Imaging
damage and complications associated with
CF.
 Symptoms of the Disease
Chronic Frequent Lung Infections
Cough: cough that
A persistent Increased susceptibility to
is often productive, respiratory infections,
meaning it produces including pneumonia and
mucus. bronchitis, often caused by
Wheezing: bacteria like Pseudomonas
aeruginosa and
A high-pitched
Staphylococcus
Shortness of aureus.
whistling sound
during breathing due Breath
to narrowed
Chest airways.
Tightness Clubbing

A feeling of pressure Enlargement of the

or constriction in the fingertips or toes, which
chest. can develop over time due
to chronic low oxygen
Treatmnt of Cystic fibrosis

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Treatmnt of Cystic fibrosis
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 1
ati
d ic •CFTR Modulators: These drugs, such as ivacaftor
Me on (Kalydeco) and lumacaftor/ivacaftor (Orkambi), target specific
mutations in the CFTR gene to help improve its function.
•Mucolytics: Medications like dornase alfa (Pulmozyme) help
break down mucus, making it easier to clear from the lungs.
•Bronchodilators: These medications help open airways and
improve airflow.
•Antibiotics: To treat and prevent lung infections, especially
those caused by Pseudomonas aeruginosa.
 2
w ay e These include chest physiotherapy and devices
Air ranc s: like vibrating vests to help loosen mucus from
le a u e the lungs.
C n iq
e ch
T

3 •Pancreatic Enzymes: Supplements to aid

digestion since CF often affects pancreatic
function.
n al
r itio t •High-Calorie Diet: Due to increased energy
t r
Nu ppo expenditure and malabsorption.
Su
 4
In advanced cases of CF with severe lung
g t ion disease, a lung transplant may be considered.
n
Lu anta
spl
r an
T
5 Staying up-to-date on vaccinations (e.g., flu,
pneumococcal) is critical for CF patients to
on
t i prevent respiratory infections.
n a
i
acc s
V

6 ia l
Access to mental health services, counseling,
and support groups for patients and families.
soc t
c ho por
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• Global Prevalence: Estimates suggest around
70,000 to 165,000 people worldwide are
living with CF.
United States: Approximately 40,000 people in
the United States are diagnosed with CF.
Conclusions
Cystic Fibrosis is a complex
genetic disorder with
significant respiratory and
gastrointestinal impacts. Early
diagnosis and a
comprehensive care strategy
are crucial for improving
outcomes and quality of life
for individuals affected by the
disease.
Multifactorial
Disorders
Researchers are learning that nearly all conditions and diseases
have a genetic component. Some disorders, such as sickle cell
disease and cystic fibrosis, are caused by mutations in a single
gene. The causes of many other disorders, however, are much more
complex. Common medical problems such as heart disease,
diabetes, and obesity do not have a single genetic cause—they are
likely associated with the effects of multiple genes in combination
with lifestyle and environmental factors. Conditions caused by many
contributing factors are called complex or multifactorial
disorders.
Multifactorial
Disorders
Polygenic traits are controlled by two or more genes. Examples: color
of skin, hair and eyes. • They cause slight and often variable range of
differences throughout population.

The most common cause of genetic disorders is multifactorial or

polygenic inheritance. Traits that are due to the combined effects of multiple
genes are polygenic (many genes). When environmental factors also play a
role in the development of a trait, the term multifactorial is used to refer to the
additive effects of many genetic and environmental factors.

What Is a Multifactorial Trait? • Controlled by two or more genes and

affected by environmental factors
• Example:
Height • Interaction of genes with environment produce many different
phenotypes • Multifactorial = complex traits
• Most traits that vary in the population, including common human diseases
Thank you!
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