Genetic Disorders: 7th Grade

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Bloom Syndrome - Jasper

                                                      Description    
        My disease makes your skin get really irritated when in the sun for the first time. It
also dilates blood vessels, leads to pneumonia, ear infections, failure to produce sperm,
lung problems, and diabetes.
http://naturalstandard.com/naturalstandard/images/monographs/main/bloomsyndrome.jpg (2)
                                           Treatment
      
There is no real treatment to the genetic disorder Bloom Syndrome at the moment,
but there are treatment's to the diseases that are enabled by Bloom syndrome. For instance
You could have cancer because of Bloom Syndrome, but chemo therapy is a cure for cancer
so that can be cured. Or you could have pneumonia because of Bloom Syndrome, but this
can be cured by antibiotics. There are a few other examples of this happening as well. The
problem with all this is because of Bloom Syndrome weakening your immune system it is very
likely for the disease the person with Bloom Syndrome got to reoccur. This means that they
would have to do this process numerous times. This would be extremely nerve racking and
tedious.They have not found a treatment yet, but they're getting there.

http://ghr.nlm.nih.gov/dynamicImages/chromomap/blm.jpeg(1)
                                          
                                                      Research

        There is a lot of research activity about bloom syndrome by scientists in the past few years.The
scientist with the most current breakthrough is Maureen Sanz.She is a PHD professor at Weill Medical
College of Cornell University. She was the one that discovered Bloom Syndrome makes you more
prone to diabetes and cancer. These discoveries were extremely important
in keeping alive people with bloom syndrome. She has done a great service to those who have obtained
this genetic disease. That is all the of the latest research, but people started to researching bloom
syndrome in 1989.All of the research that scientists like this have done is very important.

  
                                         (6)
                                                            Current Events
        Currently there is a lot of research going on about bloom syndrome. Also only 200 people have it in
the  world. That isn't very many, but many people focus a lot of their time on this disease. It is one of the
genetic disorders that have not yet found a cure for but they have several scientist researching this disease
trying to find a cure. It is a very complex disorder, therefor it is extremely hard to find out when and were to
change the DNA. People with diseases that are caused because of  Bloom Syndrome can cure those
diseases. For instance if you get cancer because of Bloom Syndrome you can win the battle against cancer,
but still have Bloom Syndrome. This unfortunate because they might get it again, or they might get a different
disease that Bloom Syndrome enables. I order for this process to be stopped Bloom Syndrome must become
extinct. We havn't found a cure yet, but hopefully we will find one soon.
          http://atlasgeneticsoncology.org/Educ/Images/G4-DNAE.jpg  (5)
                                                         Genetics
       
The cause of this genetically transmitted disease is genome instability. The reason for this condition
is the lack of protein RecQ. This protein is important energy to the cells it is in and without it it causes the
genome to be unstable. This leaves the cell susceptible to a cell mutation and that is how the disease is
formed. The reason why so few people have this genetic disorders because there has to be very rare
circumstances in order for the cell mutation be possible. It can also be caused by a mismatch in DNA
 replication or a mismatch in protein production. Although it seems like there are a lot of ways to get this
disease it's is actually really rare. In fact only 200 people have Bloom Syndrome in the world. Weather it
is a cell mutation or a mismatch in protein this disease may be formed
.  (4)
                 A day in a life of a person with Bloom syndrome
       
A day in a life of a person with bloom syndrome wouldn't be very fun or happy. It would be extremely painful
and difficult. You wouldn't be able to go in the sun without getting blisters on your face. You might have diabetes
or cancer so you would constantly have to check your blood sugar or be to weak to go out of the house. Bloom
syndrome also causes you to be prone to pneumonia so you could be lying in bed coughing. These are daily
challenges that a person with bloom syndrome face. Just to have bloom syndrome for one day would be a huge
ordeal in itself. Not many have Bloom syndrome, but the ones that do live an extremely hard day to day life.
Imagine all of the things we take for granted like enjoying a sunny day. They can't go in the sun let alone enjoy
it. Or playing sports. They can't playing soccer, football, or basketball because it's outdoors and if they get a disease
Bloom syndrome makes them prone to they obviously can't play sports. So before you think that your not able to do
a lot, think about the people with diseases like this that can hardly do anything they'd like. This would be a day in a
life of a person with bloom syndrome.
    http://media.riverfronttimes.com/2280961.0.jpg (3)
                                        



  1. <http://images.google.com/imgres?imgurl=http://ghr.nlm.nih.gov/dynamicImages/chromomap>.
  2. <http://images.google.com/imgres?imgurl=http://naturalstandard.com/naturalstandard/images>
  3. <http://images.google.com/imgres?imgurl=http://media.riverfronttimes.com/2280961.0.jpg&imgrefurl=http://>.
  4. <http://images.google.com/imgres?imgurl=http://www.helmholtz-muenchen.de/uploads/pics/hrdc_rib.>
  5. <http://images.google.com/imgres?imgurl=http://atlasgeneticsoncology.org/Educ/Images/>.
  6. <http://images.google.com/imgres?imgurl=http://globalmoxie.com/bm~pix/scientist~s600x600.png&imgrefurl=http>.




                                          Bibliography    
  • Bloom syndrome cause of instable genes." 2006 22 Jan 2009 <http://www.researchportal.ch/unizh/p3808.htm>.
  • groden, jeremy. "bloom syndrome." 1998 1/22/09 <http://en.wikipedia.org/wiki/Bloom_syndrome>.
  • james, German. 2005 23 Jan 2009 <http://www.bloomssyndrome.org/bloomssyndrome.htm>
  • John Hopkins university, 23 Jan 2009 <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210900>.                                             
  • Rimoin, David. "Bloom syndrome." 22 Jan 2009 <http://www.bloomssyndrome.org/research.htm>.
  • unkown, 2006 23 Jan 2009 <http://ghr.nlm.nih.gov/condition=bloomsyndrome>.








Comments (18)

ronan collins - Dec 10, 2008 11:04 AM

japer is there a cure
enything in the
world

Annette Dolby - Dec 10, 2008 8:27 PM

good jod ronan

Annette Dolby - Dec 13, 2008 10:57 AM

KEEP WORKING- its interesting so far, i think you wil be able to do a lot with this disorder!!!

Annette Dolby - Dec 13, 2008 11:01 AM

i mean good jobjasper

Maya L.I. - Jan 6, 2009 7:57 PM

KEEP GOING!!!!!!!!!!
Good so far

sarah Rubenstein - Jan 12, 2009 6:25 PM

Good start. I can't wait to see what more you can do!

Kylie Viola - Jan 16, 2009 2:51 PM

keep it going!

Larkin Murray - Jan 17, 2009 11:59 AM

wow thats cool keep going!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

anastasia fry - Jan 17, 2009 3:26 PM

Keep goin its due in 5 more days

Carinn C - Jan 20, 2009 5:20 PM

you might want to add a bit more detail into the description, but i agree, it's lookin good!

Kylie Viola - Jan 21, 2009 11:03 AM

cool picture but needs a lot more info. But keep it up

Annette Dolby - Jan 21, 2009 11:04 AM

keep working you only have a couple days

Larkin Murray - Jan 22, 2009 3:46 PM

well i guess you did a bit

Tommy Bliss - Jan 22, 2009 8:38 PM

this is gooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooooodddddddddddddddddddddddddddddddddddddd

jasper korican-barlay - Jan 23, 2009 7:42 AM

yyyyyyyyyyyyyyyyaaaaaaaaahhhhhhhhhhhhhhhhhhhhh
i no

Larkin Murray - Jan 23, 2009 2:09 PM

good you just have to finnish up with the slideshow video and punnent square

Tommy Bliss - Jan 23, 2009 2:54 PM

jasper that would be i know not i no

Maya L.I. - Jan 23, 2009 10:07 PM

Wow, you're coming along. Great work. You really caught up.