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What phenotypes does the genetic disorder show (appearance)?

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What phenotypes does the genetic disorder show (appearance)?

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People with ALS have weaker bones. This means their body parts are usually thinner and they are usually in wheelchairs because it is very difficult to walk. The picture of Stephen Hawking is an example of someone who has ALS might look like.

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What other organ systems are affected and how?

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What other organ systems are affected and how?

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Muscles are affected because they become weak. People with ALS have the inability to control movement. This is because nerve cells in the spinal cord and brain die over time. One example of this is Mark P. from Sacramento. He was able to bench press 180 lbs and run under a 6 minute mile, now is left side is almost completely immobile and his jaw becomes misaligned often because he was recently diagnosed with ALS. He also is able to brush his teeth very often because his mouth isn't strong enough.

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Determine the cause of the disorder: Genetic or Hereditary?

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Determine the cause of the disorder: Genetic or Hereditary?

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ALS is genetic 90% of the time, the other 10% is FALS (Familial ALS) which is inherited.

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What type of mutation causes this genetic disorder?

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What type of mutation causes this genetic disorder?

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One way ALS is caused is by a mutation on chromosome 9 p21 although it is unknown what happened to the gene. A common way to have FALS, is when there are mutations in the C9orf72. Also, the proteins cause an open reading frame (ORS) on the same chromosome. This means the ribosome gets confused and stops

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What is the rate of occurrence with the genetic disorder?

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What is the rate of occurrence with the genetic disorder?

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One person has ALS for every 50,000 people have the disorder. Right now about 16,000 Americans are currently living with ALS.

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What famous (or well known) people have the disorder?

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What famous (or well known) people have the disorder?

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Some famous people with ALS are Stephen Hawking, Hall of Fame pitcher Jim "Catfish" Hunter, Senator Jacob Javits, actor David Niven, and “Sesame Street” creator Jon Stone, and it is unknown if Lou Gehrig had ALS.

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Challenge: What medical treatment is currently available?

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Challenge: What medical treatment is currently available?

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Doctors and scientists from the ALS Association are working on a drug to slow the progression of ALS, this will cost about $2-3 billion to make this idea an approved drug. The ALS Association has also partnered with Greater New York and Georgia Chapters to try and produce this drug. This is a lot of money, the well known “ice bucket challenge” in 2014 was to raise money for research. They raised $115,000,000 in just six weeks. They started their research by taking DNA samples in Winter 2018. They said they would want to have their drug by 2020, and it was approved by the FDA in 2019. Riluzole, the produced drug has been shown to increase life expectancy by three to six months.

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The average lifespan with ALS is generally 3-5 years, the average age that people are diagnosed with it is at age 55.

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There is a mutation in this nucleotide, but it is unknown.

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Right: Chromosome 9 of somebody with ALS Left: Chromosome 9 of somebody without the disorder
The 9p21 box is red because there is a mutation in that gene just as you can see on the caption to the right it is unknown.

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Stephen Hawking is one of the most famous people with ALS, he also managed to live a long time after being diagnosed with the disorder. He had ALS for 55 years and lived until he was 76 after being diagnosed in 1963.

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“Amyotrophic Lateral Sclerosis - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, Mar. 2016, https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis#statistics

P., Mark. “ALS Has Greatly Impacted My Body.” ALSA.org, ALS Association, www.alsa.org/about-als/2013-aam/stories/2013-aam-stories-426285159.html.

“Research ALS Association.” ALS Association, 2018.

“What Is ALS?” ALSA.org, ALS Association, www.alsa.org/about-als/what-is-als.html.

“Who Gets ALS?” ALSA.org, May 2019, http://webco.alsa.org/site/PageServer/?pagename=CO_1_WhoGets.html