Transcript Genetic Disease Comprendium

Genetic Disease Comprendium
Biology Period 3B-4
2011
Progeria.
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By: Claudia Brodeur and Brandon Wilson.
Also known as Hutchinson–Gilford Progeria Syndrome.
Causes children to age very rapidly within the first two years of their lives.
Generally normal at birth but by 12 months start to have symptoms.
Symptoms growth failure, loss of body fat, hair loss, hip displacement and strokes.
Progeria disease is inherited by mutations in the LMNA gene in the DNA. Almost always occurs in
people with no family history of the condition.
There is no treatment or cure for progeria but some therapies such as Aspirin may help ease the
symptoms.
People born with progeria live typically in to their mid teens or early twenties.
Scientists are very curious about progeria because it may revel clues about normal aging.
Extremely rare.
Heart problems or strokes are usually the cause of death in these children.
Phenylketonuria
(PKU)
By: Ashley and Amanda.
PKU can cause delayed mental and social skills, seizures,
tremors, and skin rashes. Most people with PKU have
significantly small heads.
There are no certain people prone to inheriting this disease.
People with PKU need to have a special diet, that is very low
in phenylalanine. Phenylalanine is found in most common
foods, including milk, and eggs. And taking fish oil can help
with neurologic development.
The boy shown on
the right has
Phenylketonuria.
Harlequin ichthyosis causes to much skin on the body. It is
inherited by autosomal recessive patterns. Infants are more
prone to this disease. This disease is cured by creams and
ointments.
Chris Hull Andy Trumble
Progeria
Randy Novak
Cassie Delgado
Sammie Jones
HEMOPHILIA
What is it: Hemophilia is a rare bleeding disorder in which the blood doesn’t clot normally.
How is it inherited: It is an X linked disorder. It is caused when a defective X
chromosome gene is inherited.
Who it effects: It is more common in males because it is sex-linked. It is very rare for
women to have it, although they can still be carriers.
How is it treated: It is treated by replacement therapy. The missing concentrates are
slowly dripped or injected into a vein to help replace the clotting factor that is missing
or low.
 Even after
a simple hit
the bruise just
keeps building
up and blood
keeps
bleeding into
the cavity, not
clotting, and
there is
swelling.
 With no
clotting
factor, the
cut
continuously
bleeds.
Jeremy, Max, Zotta
Cystic fibrosis
 Cystic fibrosis clogs the lungs and leads to life threatening lung infections.
 This disease is inherited by the presence of two mutant genes which is
needed for cystic fibrosis to appear. Each parent carries one defective gene
and one normal one.
 Children have a 25% risk of inheriting two defective genes and getting
cystic fibrosis and a 50% chance of being an unaffected carrier like the
parent.
 This disease is treated by exercising and antibiotics for infections of the
airways and chest physical therapy
By: Aleah Laflamme and Cory Johnston
Down
Syndrome
Its caused by an extra
21st chromosome,
and as far as I know is
a genetic mutation
and not inherited.
Women over about
35 who have children
run a much greater
risk of having a child
with downs.
By: Keyera McGrew & Brandi Roberts
Albinism
• Genetic disease that causes white or pink hair,
pale skin, red eyes, and vision problems.
• Occurs when a genetic defect makes the body
unable to produce melanin.
• Occurs in about one in 17,000 babies born.
Treatment• Protect eyes and skin from the sun.
By: Matt McNitt And Nick
Allen
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Huntington’s disease is a rare fatal brain disorder caused by inherited changes in a
single gene. These changes lead to destruction of nerve cells in certain brain
regions.
Symptoms of Huntington’s
Involuntary movements such as twitches and muscle spasms.
Problems with balance and coordination.
Personality changes such as irritability, depression and mood swings.
Trouble with memory, concentration or making decisions.
Treatment of Huntington’s
There is currently no cure for Huntington’s, Treatment focuses on reducing
symptoms, preventing complications, and providing support and assistance to the
patient and those close to him or her.
By: Mackenzie
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Proteus Syndrome is excessive growth of
cells and causes skin overgrowth and a
typical bone development often with
tumors covering half of the body.
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You are born into this disease, however
when your born there are not any obvious
deformities until later development.
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No racial or ethnic differences, it effects
both men and women equally.
• There is no treatment for this disease.
Proteus Syndrome
Megan and Courtney
Cri du chat
Tessa wood and
Jade Armstrong
• Cri du chat causes babies to sound like kittens, it can also cause abnormal
facial features.
• This disease is not inherited but it is instead caused by a missing piece in
chromosome 5.
• It is more commonly found in women.
• It has no specific treatment, there are just ways to treat or manage the
symptoms.