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Albinism

Albinism. Morrie Hudiburg and Sara Fraser Period 3. Genetics. The gene for albinism is inherited. It causes the body to not make enough melanin The gene is recessive There are 4 types. Genotypes. Type 1: mutation on the TYR gene Type 2: mutation on the OCA2 gene

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Albinism

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  1. Albinism Morrie Hudiburg and Sara Fraser Period 3

  2. Genetics • The gene for albinism is inherited. • It causes the body to not make enough melanin • The gene is recessive • There are 4 types

  3. Genotypes • 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

  4. Stats • 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

  5. Chances • These are the simple chances: • The abino gene is recessive so: • If only one parent has it and the other doesn’t carry the gene: • 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: • aa and Aa- there is a 50% chance of having an albino child

  6. Chances • If only both parents carry the gene: • Aa and Aa- there is a 25% chance of having an albino child • If only both parents are albino: • aa and aa- there is a 100% chance of having an albino child • There are many more secnarios

  7. Diagnostics • 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

  8. Physical Symptoms • 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

  9. Life Expectancy • Albinos have a normal life expectancy and they lead a normal life (for the most part)

  10. Treatments • 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)

  11. Research • 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

  12. 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.

  13. 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.

  14. 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.

  15. Limitations • 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.

  16. Organizations • 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.

  17. Cure • 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.

  18. Sources! • http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism • http://aboutalbinism.blogspot.com/2010/05/albinism-there-is-cure-for-albinism.html • http://en.wikipedia.org/wiki/Albinism • http://www.albinism.org/ • http://www.wrongdiagnosis.com/a/albinism/research.htm

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