ALS, a Genetic Disorder by ARI SCHULMAN

ALS, a Genetic Disorder by ARI SCHULMAN https://padlet.com/arischulman2025/hrpy3rbwb767 Mutations causing ALS en-us 2019-06-04 14:22:06 UTC 2026-03-15 19:37:39 UTC hello@padlet.com https://padlet.net/icons/png/1f1fa-1f1f2.png What phenotypes does the genetic disorder show (appearance)? arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489243209 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.]]> 2020-04-02 15:26:51 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489243209 What other organ systems are affected and how? arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489246423 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.

]]> 2020-04-02 15:28:01 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489246423 Determine the cause of the disorder: Genetic or Hereditary? arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489252783 ALS is genetic 90% of the time, the other 10% is FALS (Familial ALS) which is inherited.]]> 2020-04-02 15:30:20 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489252783 What type of mutation causes this genetic disorder? arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489255459 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

]]> 2020-04-02 15:31:21 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489255459 What is the rate of occurrence with the genetic disorder? arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489260947 One person has ALS for every 50,000 people have the disorder. Right now about 16,000 Americans are currently living with ALS.

]]> 2020-04-02 15:33:24 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489260947 What famous (or well known) people have the disorder? arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489265113 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.]]> 2020-04-02 15:34:51 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489265113 Challenge: What medical treatment is currently available? arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489266824 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.

]]> 2020-04-02 15:35:23 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489266824 "Not so fun" fact arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489277271 The average lifespan with ALS is generally 3-5 years, the average age that people are diagnosed with it is at age 55. ]]> 2020-04-02 15:39:12 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489277271 arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489287066 There is a mutation in this nucleotide, but it is unknown.]]> 2020-04-02 15:42:43 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489287066 arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489289953 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.]]> 2020-04-02 15:43:47 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489289953 arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489296964 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. ]]> 2020-04-02 15:46:23 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489296964 arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489304021 2020-04-02 15:48:58 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489304021 arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489307204 2020-04-02 15:50:00 UTC https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489307204 Works Cited arischulman2025 https://padlet.com/arischulman2025/hrpy3rbwb767/wish/489308103 “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

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