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Transcript of ALS project
for the famous baseball player that
had it, or Charcot's Disease after the man who discovered it. Not much is known about ALS, so no one is particularly sure what type of disorder it is, but it is most likely both chromosomal and from genes. Neurologists suspect it lies on chromosome 21. It is also suspected to relate to the gene superoxide dismutase (SOD1) which detoxifies harmful free radicals. ALS is dominant in the gene. About 1 in 1,000,000 people end up having familial ALS (FALS) Symptoms:
Difficulty Breathing and Swallowing
Loss of Coordination
Abnormal Weight Loss
Inability to Speak
Loss of Motor Functions Diagnostic Test:
The one type of test made specifically to diagnose FALS
is ineffective because it tests for changes in the SOD1 gene, but 80%
of people with FALS don't have mutations in that gene. Therefore, there are no effective diagnostic tests for FALS. The survival rate for FALS is 0%. The average ALS patient is
expected to live between 3 and 5 years with the disease. In some rare cases, though, the progression of the disease can slow and the patient can live an extra 10 years. Currently, there is no cure for ALS and the only treatment, Riluzole,
only slows down the disease, and does not cure it or stop it's progression. A Cambridge ALS Institute team has teamed up with a New Jersey
biotech company to test small-molecule compounds that may be used to slow
or stop the progression of ALS. Because the causes of ALS are still very
mysterious and even though they believe FALS is contributed to the SOD1 gene, but only 20% of people that have FALS have it. The genetic counselor would probably tell them that, because the gene for FALS is believed to be dominant and there is a higher likelihood of getting it, they should not have children because there is too high of a risk of that child having FALS later. A Great Story:
Lou Gehrig was born on June 19, 1903 to a poor immigrant family in New York. His mother encouraged him to go to school and become something better, and he did. Lou excelled at sports, mainly football and baseball. When the New York Yankees saw what he had been accomplishing in college, they had to have him. Gehrig became a Yankee in 1925 and he would amass one of the greatest records in all of baseball…Thirteen years into his career, Gehrig became tired and started losing the energy for the game that he usually had. He quickly noticed something was wrong so he went to a doctor and was diagnosed with ALS. He lost the ability to de the thing he loved most, but even after he was diagnosed he still considered himself “…the luckiest man on the face of the Earth.” Lou died after two years with the disease, but his memory lives on. He is an American legend and his amazing character is the reason why the disease is named after him. References:
ALS Statistics. ALS Society of Canada, Jan. 2001. Web. 25 Apr. 2010.
ALS Therapy Institute pairs with N.J. biotech. N.p., 17 Mar. 2010. Web. 26 Apr. 2010.
Amyotrophic Lateral Sclerosis. Google, n.d. Web. 25 Apr. 2010.
A Science Odyssey: People and Discoveries: Jean-Martin Charcot. PBS, n.d. Web. 25
Apr. 2010. <http://www.pbs.org/wgbh/aso/databank/entries/bhchar.html>.
Gaudette, Mara. Genetic Testing for ALS. ALS Association, Apr. 2008. Web. 25 Apr.
Initial Symptoms of the Disease. ALS Association, n.d. Web. 25 Apr. 2010.
Lou Gehrig: Biography. The Rip Van Winkle Foundation, n.d. Web. 25 Apr. 2010.
NINDS Hails Advance in ALS Research. National Institute of Neurological Disorders
and Stroke, 15 May 1991. Web. 25 Apr. 2010.
Statistcs About Amyotrophic Lateral Sclerosis. N.p., n.d. Web. 25 Apr. 2010.
What is ALS?. Les Turner ALS Foundation, n.d. Web. 25 Apr. 2010.