Annemarie-Albinism


ALBINISM

this is an example of an albino person

 

A genetic disorder is a disease or condition that is caused by abnormalities in genes. One or both parents can have this abnormality and pass it on directly to their children. Some conditions are autosomal dominant, which means that only parent has to have one abnormal gene copy in order to pass it on; that parent also has the disease. An example of this disease is Huntington’s chorea. Other conditions are autosomal recessive, which means that both parents have to have the abnormal gene and both pass it on to their children; neither parent has the disease in this case. An example of this type of disease is Cystic Fibrosis. Sometimes a mutation can happen during the formation of the zygote. In this case no one else in the family has the condition. Finally during the time of gamete (egg or sperm) formation chromosomes may not divide equally so that you may have too many or too few. An example of this is Down’s syndrome.

 

One controversy about genetic diseases is whether or not to have children in the first place if you know you child will be affected by a genetic defect for sure. Is it right or wrong to bring a child with this defect into the world? Advances in genetic technology have allowed us to identify many genetic disorders before birth with amniocentesis. Amniocentesis is genetic testing of the fluid around the fetus during pregnancy; this is used to identify genetic diseases. If a genetic disease is found the parents may choose to abort the child and this is a very controversial decision. In the future people are also concerned about gene selection. This could mean that parents can choose not only the sex of their baby but genetic characteristics as well; intelligence or eye color for example. 

 

People who have albinism have abnormal pigment (coloring) producing genes. People affected lack coloring in the hair, skin and eyes. There is more than one type of albinism; all the different types are related by the lack of pigment. The typical albino has very, very light, almost white hair and extremely fair skin. Their eyes can be red, depending on the

amount of pigment they actually have, they can also be violet, but blue eyes are the most common.

 

A common myth about albinism is that all poeple affectde have              

red eyes. Some do but most have blue, or a violet colored eyes.

This is a good example for albino eye color as well, this little girl

has blue eyes, the most common color for people with albinism.

 

 

There are several forms of albinism, most of which are related to genetic defects in the tyrosinase enzyme needed to produce melanin. Melanin is the pigment in humans’ skin, hair and eyes. Albinism is an autosomal recessive condition, which is explained above.  Albinism not only affects humans but it also affects animals, albino animals have the same very light skin, hair and eyes as human albinos do.

 

 

This is an albino black bear. Animals with this condiation may be

looked at as interesting or even prized as a zoo animal, but in the

wild they may no live long and may suffer from other complications.

 

 

In history albinos have been viewed in a negative way. In the past people with albinism have been persecuted; they have been seen as death omens or were simply ostracized because they looked different. Today of course in most places albinos are not looked upon as outcasts but in a few places in Africa, Tanzania for example, albinos are sought after by witch doctors for ‘potions’ and ‘spells’. Even in recent popular culture, one of the villains in the movie ‘The da Vinci Code’ was played by an albino actor.


Dennis Hurley from the 'Da Vinci Code' who

played Sillas.

 

There are several types of albinism, all of which are associated with vision problems. Though many people without albinism have vision problems, this can fixed with corrective lenses or surgery, however vision problems associated with albinism cannot be corrected with either of these things. The vision problems are due to either abnormally formed retinas or an abnormal nerve connection between the eyes and brain. Vision problems range from functioning enough for reading and driving to being legally blind, which is the case for the majority of people with albinism.

 

Another way people are affected is with skin problems. Albinos have extremely fair skin which is very UV sensitive. They must use sunscreen, hats and clothing to protect their sensitive skin from the sun or else their skin can get damaged, or they could develop skin conditions.

 

Unfortunately there is no treatment for albinism except for certain precautions. These are things like protecting the skin and eyes from the sun with sunglasses, sunscreen, hats and opaque clothing. Another way to help poor vision in albinos is to use assistive devices such as magnifiers, special computer programs, and audio books.

Gene therapy is an investigational method of treating certain diseases, including some genetic diseases. For this they use genes to treat or prevent disease. What doctors have tried to do is insert healthy genes into the affected area; as an example with cystic fibrosis the healthy genes are inhaled in order to replace the missing enzyme in the lungs. These genes can produce an enzyme, protein, etc. that the unhealthy ones do not.   There has been some very early research into gene therapy for specific forms of albinism but it is not yet successful.

 

These are twins, one has albinism and the other does not as you can see.

This just shows that not all children of parents who are carriers of this gene get albinism.

 

 

People of African American heritage can have albinism, they may have the features

of a black person but have very white skin and hair and light eyes.

 

 

http://www.winnipegfreepress.com/local/albino-off-earls-menu-193488591.html 

Right here is a link about a human rights complaint against Earl's restaurants and albinism in the newspaper.

 

This is a video I found on youtube, it is an excellent insight of twin brothers, they are fratenal and are african american but one has albinism. You can see the affects that albinsim has on a person's life in a personal way and you get to see what the family and the boy himself have to go through. It is a great source to get to know a little bit about albinism. The are no parts I would recommend skipping, if you want the whole story watch the whole video, it is well put together.

here is just a cute video on albino animals. At about a minute and 40 seconds i would stop it because it just goes into advertising. This video is just cute and interesting.

 

bibliography

http://learn.genetics.utah.edu/content/disorders/whataregd/

http://www.geneticalliance.org/diseases 

http://www.medicinenet.com/genetic_disease/article.htm 

http://www.albinism.org/publications/what_is_albinism.html 

http://www.albinism.org/publications/driving.html 

http://tsjok45.multiply.com/photos/photo/1725/83?&show_interstitial=1&u=%2Fphotos%2Fphoto 

http://www.babycenter.com/0_amniocentesis_327.bc 

http://biochem118.stanford.edu/Projects/2000/fernhoff.pdf 

http://ezinearticles.com/?Albinism---The-History-of-Albinism&id=1362804 

http://www.disabled-world.com/disability/types/vision/albinism.php 

https://www.healthtap.com/#topics/what-are-the-characteristics-of-an-individual-with-albinism 

http://www.tumblr.com/tagged/black%20albino 

http://grandpacliff.com/Animals/Albinos-Intro.htm 

http://ghr.nlm.nih.gov/handbook/therapy/genetherapy 

http://www.news-medical.net/health/What-is-Gene-Therapy.aspx 

http://newswatch.nationalgeographic.com/2011/10/06/weird-wild-pictures-albino-animals-revealed/ 

http://www.humanware.com/en-canada/products/low_vision 

http://www.knowlton-family.co.uk/Albinism/news_info.htm 

http://www.pacificalbinismproject.com/ 

http://pinterest.com/jwzoomie/on-earth-as-it-is-n-heaven/ 

http://www.youtube.com/