Mutation Story
I am a gene inside William’s body. This is angelman syndrome. I effect 1 in 12 million people. I was caused by a mutation in the maternal copy of the UBE3A gene. This is caused when a person, inherits two copies of chromosome 15 from his father instead of one copy from each parent. I am a genetic disorder, that will effect William’s characteristic features such as talking, developmental delay, problems with walking/moving, and hyperactive behavior. Even though I cause a lot of negative things in Williams’s life, he will still live an almost normal life span. Now that I have explained the causes and effects, I’m going to tell you a bit more about how William was effected.
When William was 6-12 months old, both of his parents started noticing delay in sitting, walking, crawling and babbling.
While William lives the rest of his life he will constantly need to be looked after, to make sure nothing bad will happen to him. Since William has angelman syndrome one effect that is known as hyperactive behaviour. The hyperactive behaviour will not only effect William but the people around him. If William doesn’t like the environment he is in, the people he is around or his muscle jerk, his reaction will be in kicking, or pinching people.
William is able to live a normal life in the day but yet again another one of the symptoms is taking over his life, which is sleep. When diagnosed with angelman syndrome, a big affect is sleep.
***Here is the link to the Canadian Angelman Syndrome Society http://www.angelmancanada.org
Questions :
- What questions did you need to research in order to create your mutation story?
Some questions that I searched in order to write this story is, What are the causes, what are some effects, facts, and I even searched up some real stories about people who have Angelman Syndrome.
- What new or familiar digital tools did you try to use as you worked throughout this project?
The digital tools I used for this project was usually whenever I have to write an essay I usually use information from textbooks or written stuff online, but for this one project I really wanted to know how people were effected so I watched a YouTube video about some girls story. https://www.youtube.com/watch?v=WLnDMGdeC6g
- What was the process you used to investigate the topic?
The process I used to investigate this topic which is Angelman Syndrome was searching up key words, taking notes on an open word document and watching videos about this syndrome.
- How did you verify and cite the information found?
I was able to verify the information I used because most cites that I went to had a lot of the same things in common as the other cites. I cited my information by putting all the links to the websites below.
- How did the process of the completing this challenge go? What could you have done better?
I found completing this was fun. I really enjoyed doing this project and researching about Angelman Syndrome. Something I would’ve liked to do better would have more to my story.
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