Genetic Diseases

-Diseases passed by genes or resulting

from Mutations of Genes/Chromosomes
-these diseases cannot be passed
between individuals (not contagious)
-The results of Genetic diseases can be
very minor or Life Threatening.
-Some Result in oBvious easily
recognizable Physical characteristics,
while others can be completed hidden
from the casual observer.
Anyone could have a child with a Genetic
Disease!!

For each of the assigned Diseases, you will use

the internet to research the following 8 Topics
1. Cause of the Disease
-inherited recessive genes
-inherited Dominant gene
-Spontaneous Gene Mutation
-Nondisjunction Mutation
-sex linked Genes

You will always

choose one of
these 5 causes

2. Symptoms -What does an individual with this disease experience?

3.Frequency -How often does this disease occur?
Example: 1 out of every 500 births

4. Detection -How do we determine an individual has the disease?

From the Physical appearance?
Is there a specific test? Karyotype, blood Test, Etc
Can it be detected before birth with Amniocentesis or Chorionic Villi
Sampling?
(Continued next Page)

For each of the assigned Diseases, you will use

the internet to research the following
5. Treatment -None of the diseases are curable , but what is done to
help relieve the symptoms of the disease

6. Life Expectancy Normal Life Span? Shortened life span?

or is there a specific life expectancy?

7. Specific Questions Some Diseases will also have other specific

Questions Related to that disease
(The Specific questions are very Important!)

8. Pictures -Some diseases have a blue box(s) for a picture

delete the blue box and put your picture in its place
(you may add additional pics if you wish)

14) Albinism
2 Causes= Inherited recessive or sex
linked
Symptoms=
Detection= Freckles, moles with/
without pigment, very white to
brown hair.
Treatment= Low-vison aids,
nitisinone tinted glasses
Frequency= 1 in 20,000 people

Picture of a person with Albinism

17) Severe combined

Immunodeficiency Disease (SCID)
Cause= inherited recessive gene
Symptoms= pneumonia, meningitis, sepsis
Frequency= 40-100 diagnosed a year
Detection= eight or more ear infections,
infections, family history.
Treatment= bone marrow transplant, and
treatment of infections.
LIfe expectancy= Normal if not fatally
killed by the infections.

12) Hemophilia
Cause= Inherited recessive gene
Who is more often affected? Males in the
U.S
Symptoms= Excessive bleeding, large
bruises, pain, nosebleeds.

Detection= Screening tests and

clotting factor tests.
Treatment= Transfusions of
human blood
Frequency= 1 in 10,000 people
worldwide

10) Cystic Fibrosis

Cause=-inherited recessive genes
Symptoms= Persistent cough, wheezing,
breathlessness, repeated lung infections
What group is primarily affected by
Cystic Fibrosis? =
Frequency= 1 in 2,500 newborn infants.
Detection= Sweat test, genetic test.
Treatment= Antibiotic, mucus thinning,
physical therapy.
LIfe expectancy= About 37 years
What is the significance of the phrase 65
Roses? To pronounce the name of the
disease to the young children.

5) PKU (Phenylketonuria)
Cause= Inherited recessive genes
Detection= Mass screening techniques,
severe mental retardation.
Treatment= Lifetime diet with limited
intake of protein, PKU formula.
Symptoms when untreated= disability,
delayed development, behavioral
problems.
Frequency= 1 in 12,000 newborns in
North america
Life expectancy= if treated early, people
with pku can live a long and healthy life.

2) tay sachs disease

Cause= Inherited recessive genes

Symptoms= Deafness, progressive
blindness, muscle stiffness, slow
growth.
What group is primarily affected by
tay sachs disease? = Infants
Frequency= 1 in 3,500 newborn among
Ashkenazi Jews have Tay-sachs disease
Detection= Medical history of the family,
physical examination and blood tests.
Treatment= Medication, respiratory care,
feeding tubes, and physical therapy.
LIfe expectancy= 2-4 years

1) Sickle Cell Anemia

Cause= Inherited Recessive Genes
Symptoms= Vision problems, Anemia
(Fatigue), Delayed growth, and infections.

Picture of normal Red Blood Cells

Picture of Sickle Cells

Sickle Cell Cont.

What group is primarily affected by
Sickle Cell Anemia= African ancestry is
primarily affected by sickle cell anemia.

Frequency= 1 in 13 African American babies are born

with the trait.
1 in every 365 black children are born with the disease.
Detection = Can detect with a blood test
Treatment = Medicines and immunizations,
examination and tests to see your well
being.
LIfe expectancy= people lived 60 - 68
years if the gene was heterozygous and
42-48 years if homozygous.

Sickle Cell Cont.

The relationship between sickle cell anemia and malaria

is that sickle cell protects from malaria in some way. It
causes the red blood cells that the malaria parasite wants
to be a poor host because its leaking needed nutrients
and ends up being eliminated by the liver. . Therefore
not wanting to use your red blood cells.

Malaria is a disease caused by a single celled

organism, and is transmitted in the saliva of
Mosquitoes. The resulting symptoms include Fever,
chills, vomiting, Headaches, and death. What is the
relationship between Sickle Cell anemia and Malaria?

4) Progeria
Cause= spontaneous gene mutation
Symptoms= slowed growth, hair loss,
prominent eyes, high-pitched voice.
Frequency= 1 in every 4 million births
worldwide
Detection= Genetic testing for LMNA
Picture of a person with Progeria
mutations.
Treatment= Medication, Surgery, physical
and occupational therapy.
LIfe expectancy= about 13 years

7) Muscular Dystrophy (duchennes)

Cause= Spontaneous gene mutation
Who is more often affected? Infants up
to middle age
Symptoms= Progressive muscle weakness
Detection= A muscle biosy
Treatment= Medications, physical
therapy, surgical procedures to
help keep moving.
Frequency= 15 out of every
100,000 males
LIfe expectancy= Some enjoying a
normal life, some in their late
teens to early 20s

Picture of person with progressed muscular

Dystrophy

13) Turners Syndrome

Cause= spontaneous gene mutation
Who is the only group affected? Girls
Symptoms= heart abnormalities,
abnormal kidneys, large fluid collection
When do the symptoms appear? Age of 3
Detection= Examination of
physical features, karyotype.
Treatment= Growth hormone
injections injections, therapy.
Frequency= 1 in 2,500 girls

Diagram/image showing person with Turners

syndrome

15) Diabetes (Type 1)

Cause= Spontaneous gene mutation
Who is more often affected? Whites
Symptoms= Increased thirst, frequent
urination, extreme hunger, weightless,
weakness
Detection= Glycated hemoglobin
test, random blood sugar test.
Treatment= Taking insulin,
carbohydrate counting, regent
blood sugar monitoring
Frequency= 9.3% of american
population has diabetes (1)
TYPE 2 DIABETES HAS THE SAME SYMPTOMS AS TYPE 1 BUT A DIFFERENCE
CAUSE. EVERYONE HAS THE POTENTIAL TO DEVELOP TYPE 2 DIABETES

9) Klinefelter Sydrome
Cause= Nondisjunction mutation
Who is the only group affected?
Newborn males
Symptoms= Slow development during
infancy or boyhood, Male infertility.
When do the symptoms appear? Babies,
boys and teens. Rarely men.
Diagram/image showing person with
Detection= Hormone testing,
klinefelters syndrome
Chromosome analysis.
Treatment= Therapy, treatment
for infertility.
Frequency= Between 1 in 500
and 1 in 1000 male births.

3) Down Syndrome
Cause= nondisjunction mutation
What affect does this have on the chromosomes?
having 3 chromosomes on number 21 instead of 2.
Symptoms=Excessive flexibility, upward
slanting eyes, protruding tongue,
flattened facial features.
2 Pictures of people with Down Syndrome

Down Syndrome Cont.

Frequency= 1 baby with down syndrome to

every 1,600 babies without it.
What Increases the likelihood/Frequency
of having a child with Down Syndrome?
The older the women gets the more likely
for a child with down syndrome
Detection= Prenatal screenings and
chorionic villus sampling.
What are other names for Down
Syndrome= Trisomy 21
Treatment= There are no specific
treatments but if needed physical and
mental therapy.
LIfe expectancy= 60 years

11) XYY Syndrome (Jacobs Syndrome)

Cause= nondisjunction mutation
Who is the only group affected? Males
Symptoms= Increased height, severe
cystic acne

Detection= prenatal karyotyping

Treatment= Medications,
surgeries, and therapy.
Frequency= 1 in 1,000 newborn
boys

6) Huntingtons Disease
Cause= Inherited dominant gene
Symptoms= INvoluntary jerking, muscle
problems, slow eye movement, impaired
posture.
When do symptoms begin to appear?
between 30 and 50 years of age
Detection= Questions, physical exam,
review of your family medical history,
neurological and psychiatric exams.
Treatment= No treatments can alter the
corse of Huntingtons disease by
medications can lesson some symptoms.
Frequency= 3 to 7 per 100,000 European
ancestry.
LIfe expectancy= 10-30 years

16) Achondroplasia (Dwarfism)

2 Causes= Inherited dominant gene
Symptoms= bowed legs, decreased muscle
tone, prominent forehead, shortened body
parts.
Detection= Excessive amniotic
fluid surrounding unborn
infant, examination
Treatment= No treatment, but
for related abnormalities like
back problems.
Frequency= 1 out of 10,000
births

Picture of a person with Achondroplasia

8) Color Blindness
Cause= Sex linked Genes
Who is more often affected?
Offspring with parents that have it
Symptoms= difficulty distinguishing
between colors, rapid eye movement.
Detection= Eye exams and Ishihara plates
help detect it.
Picture of Ishihara Test Card
Treatment= No treatment but
glasses or contacts that
enhance color.
Frequency=
1 in 12 men and 1 in 200 women in
the world