Xeroderma Pigmentosum Genetic Disorder Project by Morgan F. and Arkadiy F.
The Basics <ul><li>Xeroderma Pigmentosum (XP)  is a genetic disorder characterized by sun sensitivity. In other words, ind...
Inheritance <ul><li>XP is inherited in an autosomal recessive manner. </li></ul><ul><li>If someone is heterozygous, they w...
Pedigree <ul><li>Here is a short pedigree of a family with XPC. </li></ul>
Impact on Life <ul><li>XP has a tremendous impact on day-to-day life. </li></ul><ul><li>Affected individuals cannot go out...
Treatment <ul><li>No “treatment” for XP exists as of yet. </li></ul><ul><li>The best thing to do is to avoid contact with ...
Symptoms <ul><li>Symptoms include: getting a sunburn quickly, freckles, dry skin </li></ul><ul><li>Odds for cancer increas...
Types of XP <ul><li>There are several different gene mutations that cause XP.  We will be focusing on the gene known as XP...
Where XPC is <ul><li>XPC is located on the 3 rd  chromosome, between base pairs 14,186,646 and 14,220,171. </li></ul>
XPC <ul><li>Due to a mutation in the XPC, or Xeroderma Pigmentosum, complementation group C gene. </li></ul><ul><li>Codes ...
Research <ul><li>Protein Therapy </li></ul><ul><ul><li>Cream that stimulates “bad” proteins. </li></ul></ul><ul><ul><li>Li...
Other Interesting Facts <ul><li>Certain types of sunblock can’t be used by people with XP, because it absorbs light instea...
Go Here for More Information <ul><li>www.xps.org </li></ul><ul><li>http://joomla.xpsupportgroup.org.uk/ </li></ul><ul><li>...
THE END.
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Xeroderma pigmentosum a2 arkadiy f, morgan f

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Xeroderma pigmentosum a2 arkadiy f, morgan f

  1. 1. Xeroderma Pigmentosum Genetic Disorder Project by Morgan F. and Arkadiy F.
  2. 2. The Basics <ul><li>Xeroderma Pigmentosum (XP)  is a genetic disorder characterized by sun sensitivity. In other words, individuals with XP are extremely sensitive to the Sun’s UV rays. </li></ul><ul><li>XP is actually the name of 8 different gene abnormalities in 8 locations. </li></ul>
  3. 3. Inheritance <ul><li>XP is inherited in an autosomal recessive manner. </li></ul><ul><li>If someone is heterozygous, they will also be asymptomatic. </li></ul>
  4. 4. Pedigree <ul><li>Here is a short pedigree of a family with XPC. </li></ul>
  5. 5. Impact on Life <ul><li>XP has a tremendous impact on day-to-day life. </li></ul><ul><li>Affected individuals cannot go out in sunlight because of the UV radiation. </li></ul><ul><li>Special windows are required everywhere. </li></ul><ul><li>Some light bulbs must be avoided. </li></ul><ul><li>Constant attention to making sure that skin is not exposed to UV light. </li></ul>
  6. 6. Treatment <ul><li>No “treatment” for XP exists as of yet. </li></ul><ul><li>The best thing to do is to avoid contact with UV light, thus preventing skin damage. Special suits can block out UV rays. </li></ul>
  7. 7. Symptoms <ul><li>Symptoms include: getting a sunburn quickly, freckles, dry skin </li></ul><ul><li>Odds for cancer increase by more than 1000! </li></ul><ul><li>The average age for developing the first skin cancer is less than 10 years. </li></ul>
  8. 8. Types of XP <ul><li>There are several different gene mutations that cause XP. We will be focusing on the gene known as XPC. </li></ul>
  9. 9. Where XPC is <ul><li>XPC is located on the 3 rd chromosome, between base pairs 14,186,646 and 14,220,171. </li></ul>
  10. 10. XPC <ul><li>Due to a mutation in the XPC, or Xeroderma Pigmentosum, complementation group C gene. </li></ul><ul><li>Codes for a protein involved in repairing damaged DNA. </li></ul><ul><li>DNA that is damaged by UV rays can’t be fixed. </li></ul>
  11. 11. Research <ul><li>Protein Therapy </li></ul><ul><ul><li>Cream that stimulates “bad” proteins. </li></ul></ul><ul><ul><li>Like insulin for diabetics. </li></ul></ul><ul><li>Gene Therapy </li></ul><ul><ul><li>It is possible to replace mutated gene. </li></ul></ul><ul><ul><li>Then add working copy of gene. </li></ul></ul>
  12. 12. Other Interesting Facts <ul><li>Certain types of sunblock can’t be used by people with XP, because it absorbs light instead of reflecting it. </li></ul><ul><li>Xeroderma Pigmentosum is also known as ‘Vampire Syndrome’. </li></ul>
  13. 13. Go Here for More Information <ul><li>www.xps.org </li></ul><ul><li>http://joomla.xpsupportgroup.org.uk/ </li></ul><ul><li>http://www.kumc.edu/gec/support/xeroderm.html </li></ul>
  14. 14. THE END.
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