Mutation Story With Tay-Sachs Disease

Part 1- Mutation Story

Hello, I am the Tay-Sachs disease. I have just tampered with my hosts 15th chromosome by mutating the HEXA gene and effecting its production of the Hexosaminidase-A enzyme. This was possible because both the parents of my host where carriers of the disease, but did not have it themselves.

My host has now been born. There is no way of anybody knowing that I am in him because he will show no signs of having my disease. After six months the first sign will be spotted, a red dot on his eye which can be found in an eye exam, he will then star to suffer from poor eyesight and eventually blindness. Later he will also experience breathing problems lack of motor skills leading to paralysis, seizures, deafness, and more.

My hosts parents have now noticed my disease and have gone out to seek treatment. They know that I will most certainly lead to the child’s death, but they want to try to prolong my hosts life so they decided to give him medication to help prevent seizures, and they installed a feeding tube so he won’t choke, choking can be a big problem for him because of his difficulty breathing. They also put him in physical therapy in an attempt to keep his joint flexible and improve his motor skills.

These treatments have done a good job at delaying my progress, but eventually I have killed my host once he reached the age of five years old because he has finally lost the ability to move and his seizures have gone out of hand and the medication has stopped working. So in conclusion this is what will happen if you have Tay-Sachs Disease.

 

 

 

 

 

 

Part 2- The Making of Mutation Story

Questions:

  1. Is Tay-Sachs Disease caused by Substitution, insertion, or deletion?
  2. How does this happen?
  3. When does this happen?
  4. What are the symptoms?
  5. What will eventually happen to the host?
  6.  How is this treated?

Answers:
1. There are 65 single base substitutions, 1 large + 10 small deletions, and 2 small insertions.

2. Tay-Sachs disease is caused by the mutation of the HEXA gene and effects the production of an enzyme called Hexosaminidase-A

3. The process start early in the fetuses life during pregnancy, but the baby won’t show any symptoms until it is 3-6 months old.

4. One of the first signs that a baby has this disease is a red dot in the back of their eye, they will then experience poor eyesight, they will be excessively startled by noises, they will develop much more slowly, muscle weakness that can result in paralysis, loss of hearing, difficulty swallowing, muscle stiffness, and seizures.

5. Usually they will only live into early childhood.

6. There is no cure, but you will be given medication to dampen the symptoms, maybe a feeding tube, and physical therapy to try to keep joints as flexible as possible.

What tools did I use?

Like usual I used google to find facts, but I also used a youtube video which I don’t usually do and I found it quite interesting.

What process did I use?

First of all I asked questions that I would need the answers to be able to write the story, then I went to verify if my answers where correct, then I looked through the information to find what I would actually need, then I put it all together in the story.

How did I verify the information?

Once I found my information I would go to other websites to double check if they had the same answers that I got from the first website.

How did the process of completing this challenge go?

I think it went pretty well, but I think it could have gone better if I asked more questions at the start because I was needing to find the answers to more questions as I was writing the story.

Sources

 

http://ghr.nlm.nih.gov/condition/tay-sachs-disease

http://www.ncbi.nlm.nih.gov/pubmed/9090523

http://www.nhs.uk/conditions/Tay-Sachs-disease/Pages/Causes.aspx

http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/care-at-mayo-clinic/treatment/con-20036799

http://i.telegraph.co.uk/multimedia/archive/02464/baby_2464393b.jpg

http://d.fastcompany.net/multisite_files/fastcompany/poster/2014/03/3028124-poster-p-dna.jpg

 

TOKTW 2016

Take Your Kid to WoWIN_20151104_101416rk

Take Your Kid to Work

The Interview:

  1. What is your job title? Office Manager/ Part Owner
  2. What is your job description? General Office Administration
  3. What are the duties and/or tasks you perform at this job? Send invoices to customers, manage time sheets, job cost analysis, order office supplies, ect…
  4. What qualifications do you have for this job in the following areas:
  5. Training? None, on the job
  6. Education? Education on the job
  7. Experience? No prior experience
  8. Skills and attributes (personal qualities)? Organisation, ability to deal with people, and solving problems
  9. What are some of the things you like about this job? Close to home, coworkers, and learning new things
  10. What are some of the things you dislike about this job? Dealing with rare customer complaints, collecting information to close a job, and phone calls in the middle of the night
  11. How do you anticipate this job changing in the next 5 years or so? It may expand and require more personnel

Student Reflections:

  1. Three reasons why I would like this job
  2. a) Pretty straightforward
  3. b) Sometimes I would be able to do it from home ex: If I am sick
  4. c) I would get to learn new things
  5. Three reasons why I would not like this job
  6. a) Late night phone calls (because I probably won’t be able to wake up and answer)
  7. b) I would not like dealing with complaints
  8. c) I would be sitting at the computer all day
  9. Is this a job for me? No because I don’t want to be doing something where I will be sitting at a computer all day and talking on the phone.
  10. What are the values of TOKTW? I think Take your kid to work day is a good idea because it can show you what it will be like working after you are finished school.