By:Alex SATo CANAVAN DISEASE

The Life of a Genetic mutation CaNAVAN DISEASE The Life of a Genetic mutation Hello their, I am Canavans disease, a progressive neurological disorder widely prominent in Ashkenazi culture. I am founded in infants, I am also a fatal disease, with no known cure. Unfortunately infants who are born with me have very low chances of living past ten years old. I have not explained what exactly I am yet so here is my sort of "life biography". I am Canavans disease, I go straight to the control centre of your body: the brain, and I take detrimental tolls on family's and their infants. I directly affect the ASPA gene (which can be found in chromosome 17), which creates an enzyme that helps to maintain white matter in the brain. The white matter reduction prevents the proper transmission of nerve signals, which affects the movement and function in the essential areas of your body. I am rare and I can only have a chance to be created if their is two carrier parents, to make a host (1 in 4 chance) that will be affected. I can be very sneaky, with only starting to show signs from three to six months of age in the newborns life, so your child may be affected but you might not be able to tell right at birth.

The Life of a Genetic mutation CANAVAN DISEASE The Life of a Genetic mutation After I have infected a host, and start to show signs it will get harder for the host to cope with me. Initially I do show some symptoms from birth but they may not be detailed enough to be narrowed down to me. At birth host children will show symptoms like low muscle tone, an abnormally large head, and poor head movement control. When they start to show more symptoms the list gets even worse. Some hosts will have troubles with swallowing, be unresponsive (for the most part) and will be irritable. Symptoms also include: Seizures, sleep problems, acid reflux from the stomach, and hearing loss may occur as well. Children who are born with me may never be able to walk on their own, or for that matter do anything most kids can do without any assistance (simple things like sitting and standing). Recently though scientists have found a mild version of me, in which children do not show as much physical and mental activity issues and are able to learn at school.

The Life of a Genetic mutation CANAVAN DISEASE The Life of a Genetic mutation As I said earlier I am widely prominent in the Ashkenzi culture; although I can be found outside of it the chances of becoming infected or a carrier are particularly higher in this Jewish culture. The chances of me being contracted in a male or a female are at the same risk. In my introduction I briefly brought up the white matter in the brain that I stop an essential part of your nervous system; the protection for your nerves. The white matter which is scientifically named myelin needs an enzyme (which I have mutated) to order to break down sulfatide (which needs to be gone for white matter to form). Their are other mutations that are in the same genetic disease "family" as me and that is the Leukodystrophies.

The Life of a Genetic mutation CANAVAN DISEASE The Life of a Genetic mutation Although their is no full cure for me their is still things that can be given to my host to help them better cope with it. They can be given support when walking, sitting, standing, and using basic body movements, if needed swallowing tubes can be used, and if applicable anti-seizures medicine can be given to help treat seizures. With still no known cure for me scientists are looking even further into how to fix me and replace me, they have already found me. They are looking to replace me, with a healthier "better" gene. They have tested it out already on a few of my hosts, and they have shown improvement in symptoms that were once there, but have to wait to see if it is completely safe. I just hope they don't look to far.

The Life of a Genetic mutation CANAVAN DISEASE The Life of a Genetic mutation This is how I could infect a host body.

The Life of a Genetic mutation (PART 2) CANAVAN DISEASE The Life of a Genetic mutation (PART 2) These are questions I used in my process to get my information: How is this mutation obtained in a new host? How does it form? What causes this mutation? How does this affect a life? Does it have any pros? How does this mutation affect the body? How does it mutate your genes? What is canavans disease? Can canavans disease be treated? Does canavans disease affect you physically or mentally or both? Can this mutation be treated overtime? Some new or familiar tools I tried as I worked through this project were things like my citation website, it allowed me to verify and cite the information I found. I also used more images (from Google) to get a clearer picture in my mind as to how this mutation works and effects its hosts body. I also used pages to take my notes and PowerPoint to put everything together in the end. While investigating this topic I used a process that allowed me to clearly navigate my information and make it easier for me to put all my notes together in the end. By organizing all the information I found while taking notes on it, saved me plenty of time when it came down to making the final product. I also used the 4A's (ask, acquire, analyze, and assess) to produce a cleaner presentation. I verify and cited the information I found by using citation machine, which allowed me to create citations all in one format (MLA) and crest complete citations with embedded links. I verified the information I found by using the third A (analyze) and used my digital literacy taught tools to make good choices in reliable sources. I think the process of completing this challenge went well. I feel like it taught me a lot about my mutation, and by talking about it through the "eyes" of the mutation it allowed me to to learn about it in a more creative detailed way. I feel like my story explained Canavan's disease in a simple but still detailed explanation.

Citations "Canavan Disease." Wikepedia. Apr. 2016. Web. 10 May 2016. <https://upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/1350px-Autorecessive.svg.png>. "Canavan Disease." Genetics Home Reference. U.S National Library of Medicine, 10 May 2016. Web. 10 May 2016. <https://ghr.nlm.nih.gov/condition/canavan-disease#diagnosis>. "Canavan Disease." NORD. National Organization for Rare Disorders, 2015. Web. 10 May 2016. <http://rarediseases.org/rare-diseases/canavan-disease/>. "How Canavan Disease Is Inherited." Canavan Foundation. Web. 10 May 2016. <http://www.canavanfoundation.org/how_canavan_disease_is_inherited>.