The Life of a Genetic Mutation
Mutant Genes in Ambras Syndrome
Yes, I am the gene that caused Melissa to have Ambras syndrome. Melissa functions completely normally, but she has a very different appearance than the average human. This is because she is abnormally hairy. Ambras syndrome (aka hypertrichosis or werewolf syndrome) is an extremely rare gene mutation that causes excessive hair growth. Her mutation is genetic, and her father had Ambras syndrome as well. Melissa has two brothers, but neither of them were diagnosed. A father can only pass off his mutation to his daughters, and never the sons. I am located inside her body, near a section of her X chromosomes. I grow on the short arm of chromosome 8. Some people who are diagnosed with Ambras Syndrome receive abnormal hair growth later in life, but Melissa’s situation is congenital. Her case is generalized, meaning that it occurs over her whole body.
Ambras syndrome can unfortunately not be cured. You are given the option of laser hair removal, although it would result in major scaring. Ambras syndrome can be acquired later in life, and in some cases is found to be a side effect of chemotherapy. Ambras has also been found to be a quite common side effect of cyclosporine, and the majority of children using this drug will experience hypertrichosis to some extent. The cause to Ambras syndrome is unfortunately still unknown. In a genetic case, Ambras syndrome is obviously passed on from the parents, and most acquired cases are believed to be caused from later stages of cancer.
Melissa is a crucial part of my life, because, well, I wouldn’t be informing you today if it weren’t for her. I must say, the girl’s a trooper. She has gone through some pretty tough situations and is still able to succeed in life. School has been awfully difficult for her, because she has had to face some bullies. She is in the eleventh grade now, and is very smart. In the sixth grade she actually dropped out of public school and became home schooled, but last year she decided to break out of her shell and conquer public school once again. Walking around in public can get frustrating for Melissa. Whether she is walking around the mall or the beach, she will always get weird looks from strangers. She will always get young children asking what is wrong with her, and she will always hear those stupid and annoying jokes that she has heard a million times, over and over again. She plans on becoming an entrepreneur, and running her own company where she takes hair and makes wigs for cancer patients. All through her life she will have to deal with her differences from everyone else, but thats okay. Thats just the life of Melissa.
What questions did you need to research in order to create your mutation story?
What causes hypertrichosis?
Can hypertrichosis be passed on by either parent?
How do you treat hypertrichosis?
Is hypertrichosis common?
Where is hypertrichosis located?
Is hypertrichosis something that you are born with?
Is hypertrichosis a side effect of any diseases?
What are the symptoms of hypertrichosis?
Can hypertrichosis appear among animals?
What new or familiar digital tools did you try to use as you worked through this project?
I went on youtube and watched documentaries about people who actually have this mutation, so I get a more visual and in depth description on what life is like with hypertrichosis.
3. What was the process you used to investigate the topic?
I first wrote down all of the questions that I thought may be useful for me to discover. Then I searched them up one by one, while taking notes so that I could later write a story. After that I created an outline for my story, and then I finally put it all together.
4. How did you verify and cite the information you found?
I would search up each question that I had, and then I referenced it to a few others to make sure the information was accurate. Then I would take the website that I used to collect my information and copy the URL so there is an easy link for anyone to check it out.
5. How did the process of completing this challenge go? What could you have done better?
The challenge went well, and I am proud of the work that I have done. Next time I could work on digging deeper in my information, and trying to brainstorm possible causes.
http://www.dermnetnz.org/hair-nails-sweat/hypertrichosis.html
http://www.classkids.org/prednisone.html
http://www.thehumanmarvels.com/the-werewolf-syndrome-hypertrichosis/
http://www.primehealthchannel.com/wp-content/uploads/2011/02/Hypertrichosis-Images.jpg
Physics, Chemistry and Math – A simpleNeasy App by WAGmob
One app that captures and teaches the aspects of my science class is called: Physics, Chemistry, and Math – A simpleNeasy App by WAGmob. I downloaded about 5 of the best science apps, but this one caught my attention and is by far my favourite. It is an easy step by step process to use, and teaches a wide variety of concepts that we learn about in our current science class. Anyone could download the app and learn a shipload of science, physics, and even math.
This is the thumbnail of the app, which is found on the apple ios app store.
Questions:
1) Is the app well suited for non-tech people? For example, is it difficult to use?
This app is very simple to use. I opened the app not knowing a thing about how to use it, but the first screen that pops up gives you 3 options. There is a button called physics, a button called chemistry, and a button called math. Once you select which subject you are studying, it gives you 3 new options: Learn, Review, or Test. If you click learn, it gives you two different concepts to learn about, based off of the topic that you chose at the very beginning. Once you choose which concept you want to learn about, it gives you a very long, thoroughly detailed page explaining the concept. The page will include diagrams, pictures, and examples to make it easy to follow. If you click review, it shows you a set of 10 cue cards to help with your memory. Lastly, if you click test, it quizes you on what you learned while using the app.
2) What is your least favourite aspect to this app?
I don’t like how you have to buy more content. Once you buy more content, you have access to 2 more tutorials, 1 more quiz, and 1 more set of cue cards. Very few people like to spend money on an app, especially if it is for learning. I feel as if that if driving people away, rather than pulling them in.
3) Does this app tie in with what you are learning in your science class?
Yes, it does very well. The chemistry portion covers a lot of what we have recently been learning. In the learning category, it gives you an option to either read about the atomic theory or the basics of chemistry. Between those two options, you can learn heavily detailed material from matter, to ions, to Thomson’s plum pudding model in 1897. This app would have been fabulous help while studying for a test.
4) What makes this app so much better than any other science app?
This app differs from any other learning app because it is so detailed and well put together. The pages include great detail and diagrams. Also, since this type of material is based around our age group, the kid-friendly vocabulary makes it very easy to understand, whereas in some other apps the vocab is extremely large. One final point is that there is such a wide range of material to choose from. You can select concepts to learn about from 3 different topics, which must give the app a higher rank for best learning apps.
5) What is your favourite aspect to this app?
I love how there is a search bar at the top that makes it easier to find exactly what you are looking for. You can easily just type in a keyword and find out anything and everything there is to know about that specific thing. Though many of these keywords we learned about in class, there are many keywords that I have never heard of. Each page provides a thorough explanation of the keyword, in the learning section.
6) Does this app require wifi, and is it compatible with other devices?
This app does not require wifi, unless you are trying to buy more content. This makes it simple to use on the go, as well as when you are just at home trying to study. I searched for the app on google play store, and the results were not as I had hoped. You can for sure download the app on apple ios, but I was unable to find it on the Android play store or the google play store.
Bag of Change Lab
In this lab we mixed 3 chemicals together, and assessed the physical and chemical changes.
Digital Footprints
This Keynote demonstrates multiple tools and tips that you could use to keep a responsible and mature digital footprint.
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