Mutation Story

 

Mutation Story
Hi, I’m Marfan. I’m the gene inside Annie’s body. Annie has always been very, very thin. Her ribs are larger than normal, she has problems with her spinal curvature and extremities considerably longer than the average and with equally long and thin fingers. Her face is narrow and long, and her chest that sinks or protrudes. Annie also has vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. But I have something in particular: I do not affect Annie’s intelligence in any way and although their manifestations are somewhat atypical, I am one of the most common genetic syndromes. I am a strange connective tissue disease of the body that affects and causes various changes in bone structures, eyes, lungs and blood vessels, among other things, and it is not my intention to hurt Annie, but that is what I do, for that I was created. It was all caused by defects in a gene called fibrillin-1. This gene plays an important role as a fundamental pillar for the connective tissue in the body. The defect in the gene also causes excessive growth of the long bones of the body. People with this problem ( Annie ) have high stature and long legs and hands. I still do not know how the form of this exaggerated growth occurs. In most cases, I am passed down from parent to child (hereditary). However, up to 30% of patients do not have a family history, which is called “sporadic”, and this is the case Annie. In sporadic cases, it is believed that the syndrome is caused by a new genetic change.  Advances have been made in the early diagnosis and treatment of Marfan syndrome. It’s now possible for Annie who have Marfan syndrome to live longer and enjoy a good quality of life. Because Annie was properly diagnosed and treated, she may live an average lifespan.

Image result for sindrome de marfanImage result for marfan syndromeImage result for marfan syndromeImage result for marfan syndrome

Ask
-What are the main symptoms of Marfan syndrome?
-What is the treatment that one should follow when having a certain syndrome?
-What are the main characteristics of a person with Marfan syndrome?
-How do you get Marfan syndromes?
-Affects this syndrome on the child’s learning?                                                                                                                                  -How long do you live if you have Marfan syndrome?

Acquire

I got all the information from the following sites
www.marfan.org

https://medlineplus.gov/spanish/ency/article/000418.htm

http://www.nature.com/ejhg/journal/v15/n7/full/5201851a.html

CBL – Engineering Brightness Proposal

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Two weeks ago, we had a Skype chat with Eladio, Dennis, and their students Eduardo and Paulo in the Dominican Republic, Santo Domingo. We learned about light poverty and their living conditions.

Last week, we also had a Skype chat with Ian Fogarty and his class, from New Brunswick. They helped us a lot by answering some questions we had about the lights that they made. They taught us more about what materials to use and which ones not to. They clarified our questions and ideas.

Some of the information that we got from the first Skype chat was: 1/3 of the population in tne Dominican Republic has access to electricity, the communities have 3-4 hours of access to electricity . Private schools use technology as much as we do, but in Public Schools they only use books, no electricity, and sometimes ,  you can see a teacher with one computer in the class, but it’s an old one, it doesn’t really work, what makes education for the kids even worst. Then, with the students from New Brunswick, we learned what materials to use and what not to, and specific information for our projects, like where to buy all our materials, what do we need, what is better, etc.

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So, with my partner ,  We were thinking about working with solar power, because it’s safer and easier to charge the light, we also thought that it’s really interesting and trying new stuff. We are now connecting with a company called Liter of Light to get some ideas, advices.

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here’s their link : http://literoflight.org/index.php#prettyPhoto

Here’s also a screenshot from our message sent to Eladio and Dennis. We have asked them a few of questions about their ideas, and ours, and we have talked about our foundraising video.

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We are also going to do a fundraising to raise some money, and for the fundraising we are going to be doing a video with some interviews to people from the DominicanRepublic .  We are now thinking about designs for LED lights.

Help us. Help them.

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image’s link: https://www.google.ca/search?q=liter+of+light&client=tablet-android-samsung&prmd=ivn&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjhmbGUp-HQAhVVzWMKHTQvCR8Q_AUIBygB&biw=1024&bih=600#imgrc=3NQyQuj4fvx5kM%3A

https://www.google.ca/search?q=liter+of+light&client=tablet-android-samsung&prmd=ivn&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjhmbGUp-HQAhVVzWMKHTQvCR8Q_AUIBygB&biw=1024&bih=600#tbm=isch&q=republica+dominicana+pobreza+de+luz&imgrc=-J31U5TNmkgCSM%3A