Sunday, March 13, 2011

Works Cited

/, Area. "Genetic
Counseling." Oak Ridge National Laboratory. Web. 13 Mar. 2011.
<http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genecounseling.shtml>.


"Albinism/ Hypopigmentation/
Albinos." Medindia - Medical/Health Website. Web. 13 Mar. 2011.
<http://www.medindia.net/>.


"Albinism." University
of Kansas Medical Center
. Web. 13 Mar. 2011.
<http://www.kumc.edu/gec/support/albinism.html>.


"What Is Albinism?" The
Vision for Tomorrow Foundation - Dedicated to Public Awareness of the
Non-degenerative Retinal Disorders That Cause Low Vision.
Web. 13 Mar.
2011. <http://www.visionfortomorrow.org/>.

How possible is it that a cure will be found?

     There is a procedure that is in its' early stages called tenotomy. It has been shown to improve some of the eye problems associated with albinism. For more information contact Dr. Robert Burnstine of Akron Children's hospital at boomeriu@aol.com

What organizations can help a family cope with a child's disorder exist?

     Your local children's hospital's genetic counselor can help you cope with albinism. To find support groups go to www.kumc.edu/gec/support/albinism.html

What limitations does the person have?

     Eye problems and susceptibiltity to skin cancer and sun burn are the only limitations that a person with albinism would face.

What is everyday life like?

     People with albinism will experience difficulties in vision, but in most cases this can be corrected with glasses. They are also highly susceptible to sun burn and skin cancer, but this too can be avoided with sunscreen and protective clothing.
      Overall, people affected with albinism can do anything that they please.

How can the disease be treated?

     There are no current treatments for albinism. Eye glasses can correct sight and senscreen can protect skin. But as far as correcting the lack of melanin production there is no treatment.

What is the life expectancy of someone woth albinism?

     In developed parts of the world where sunscreen is readily available, people with albinism have a normal life span. If someone in an underdeveloped country had albinism and could not get sunscreen there is about an 80% fatality rate due to skin cancer.

What are the physical symptoms of albinism?

     A person with albinism can not produce melanin, so they have no pigment. This means that they are very susceptible to sunburn and skin cancer. They can still do any outdoor acitivity that they choose, but a lot of sunscreen is necesary.
     They also have many eye problems. Eye problems vary from patient to patient, but they include problems with depth perception and particularly bright lights. Typically, glasses can correct many of these problems.

How is albinism diagnosed?

     Albinism can be diagnosed by a simple eye exam done by an optometrist or an ophthalmologist. If the diagnosis is unclear from the simple eye exam then a Visual Evoked Potential, or VEP, can be done to get a clearer answer. There are gene tests, but they are not perfected yet and thus not as reliable.

What are the chances of a person affected by Albinism passing it on to their offspring?

     What percentage of children could be affected by albinism depends on the genotypes of the parents. If one parent has albinism and has offspring with someone who does not have albinism and does not carry it, then none of their children will have albinism. However, all of their children would carry the albinism trait and could pass it on to their offspring.
     If someone with albinism had offspring with someone who carried albinism about 50% of their children would be affected. The unaffected children would carry the disease.
     If someone with albinism had offspring with someone who also had albinism 100% of their children would be affected by albinism.

How prevalent is the disease in the population?

     About one in seventy five people carry albinism, but are not affected by it themselves. About one in 17,000 people suffer from albinism.

What are the possible genotypes of the parents?

    Each parent would carry the disease. Their genotype would be Aa, with the little a representing the gene for albinism. The parents are not affected because of the big A that they have. The big A overrides the little a and so they are not affected.

How does a person inherit Albinism?

     Albinism is a recessive genetic disease. This means that a person who inherits it received one recessive allele from each parent.

What is a Genetic Counselor?

     Genetic Counselor is a doctor who works with people and families that have or carry genetic diseases. They work to identify and treat the disease as well as helping the affected and their family. A Genetic Counselor may also work to further research genetic diseases.
     To become a Genetic Counselor you need a Masters degree. Your study would include genetics, ethics, counseling, and the psychological impact of these diseases. You would also need to pass the exam given by the American Board of Genetic Counseling.