Transcript Albinism - bYTEBoss

Albinism
Morrie Hudiburg and Sara Fraser
Period 3
Genetics
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The gene for albinism is inherited.
It causes the body to not make enough melanin
The gene is recessive
There are 4 types
Genotypes
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Type 1: mutation on the TYR gene
Type 2: mutation on the OCA2 gene
Type 3: mutation on the TYRP1 gene
Type 4: mutation on the SLC45A2 gene
All of these genes are involved in producing
melanin
Stats
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1 in 17,000 people in the US have it
1 in 20,000 people world wide have it
It affects all races
Many people carry the gene but show no signs
Chances
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These are the simple chances:
The abino gene is recessive so:
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If only one parent has it and the other doesn’t carry
the gene:
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aa and AA- there is a 0% chance of having an albino child
If only one parent has it and the other does carry
the gene:
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aa and Aa- there is a 50% chance of having an albino
child
Chances
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If only both parents carry the gene:
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If only both parents are albino:
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Aa and Aa- there is a 25% chance of having an albino
child
aa and aa- there is a 100% chance of having an albino
child
There are many more secnarios
Diagnostics
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Albinism is a disease that mostly affects the
appearance of the patient
It is diagnosed if the patient has very light skin
and hair and lacks pigment in the eyes
The symptoms vary between types so a genetic
test can determine the type that the patient has
Physical Symptoms
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White or very light skin
Very light hair
Red eyes (some cases)
Vision problems
Less melanin makes them easier to burn in the
sun, which make them more susceptible to skin
cancers
Life Expectancy
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Albinos have a normal life expectancy and they
lead a normal life (for the most part)
Treatments
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There is no treatment for albinism but doctors
advise their patients to:
Stay out of the sun
 Always wear sunscreen
 Where UV protective clothing
 Use large print books, computers, etc. (for patients
with visual impairments)
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Research
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There isn’t as much research going on with
albinism as other diseases
Currently there is no cure for albinism
The genes that cause albinism have been
discovered
Everyday Life
First, it is hard because since albinos lack melanin,
the pigment responsible for protecting a person
from ultraviolet radiation, their skin can burn
more easily and they are more susceptible to
different kinds of skin cancers. It also burns
very easily so they need to go outside with lots
of sunscreen and their bodies as protected as
possible. They can go out in the sun at beaches
and pools but they need to watch the time spent
in the sun. It can be very dangerous for them.
Everyday Life
Also, since melanin is responsible for basically all
coloring their eyes do not have color. This can
cause problems with vision and sometimes
photosensitivity.
Other than no pigment and risks for such
problems listed above, albinos grow and develop
just as a normal person would.
Everyday Life
Generally albinos can do well physically minus the
vision and sun burning problems but, they also
sometimes have to face social issues. People
threaten them with violence and discriminate
because albinos have no color. Some cultures
do this because of superstition or belief of
witchcraft. It is total discrimination and makes
life a little more scary and difficult.
Limitations
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For albinos mostly they really just have to watch
how long they are in the sun. They cannot be
out there long because of the cancer risks and
the sunburns. Their bodies just can’t take it.
They really need to cover up their eyes as well
because vision problems can be caused by the
sun as well.
Organizations
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The main organization that helps parents learn
and cope with their child’s disease is NOAH.
This is The National Organization for Albinism
and Hypopigmentation. It helps families be
aware of their child’s condition and helps them
find a way to make day to day life easier. They
also promote research to curing the disease and
education on it.
Cure
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Right now we definitely don’t have a cure for
albinism. There are treatments that can help
with the effects of albinism, but no one has had
a cure so far. Scientists are definitely working on
a cure, but no big discoveries have been made.
Anything is really possible depending on how
much money can be put into research so maybe
one day albinism can be cured.
Sources!
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http://ghr.nlm.nih.gov/condition/oculocutaneo
us-albinism
http://aboutalbinism.blogspot.com/2010/05/al
binism-there-is-cure-for-albinism.html
http://en.wikipedia.org/wiki/Albinism
http://www.albinism.org/
http://www.wrongdiagnosis.com/a/albinism/re
search.htm