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Preventing blindness with damaged
 cells studies; and how the location
 and histone code influence in
 Epigenomics.




Camilo Arias Rodríguez
Medical student.
Medical utility
Introduction
Epigenetics: Non genetic factors
influencing DNA structure.



Eye as a focus of degenerative
diseases, leading to blindness.




Research as a way to understand,
solve and improve.
Mohammad Haeri, Barry E. Knox,
Aphrodite Ahmadi.Modeling the
Flexural     Rigidity     of   Rod
Photoreceptors.Biophysical Journal,
2013; 104 (2): 300 DOI:
Average photoreceptor:
-Cilyndrical shape.
- Outer segment.
- Discs.
- Function: To convert light into
chemical and electric signals.
Closer eye cell structure.




Discs of the outer segment
are vulnerable to damage
and breakage (mutations).




Because of rhodopsin high
concentration.
High density bands     High rhodopsin concentration




                                     Vulnerable to damage and

Low density bands                    breakage.




Average rhodopsin                            Degenerative diseases
                      Flexible and
concentration                                can   lead   easily   to
                      steady.
                                             blindness.
Student comment




I think the mutation in the
 photoreceptors discs,
    can be used as a
diagnosis help, to define
 how many risks does a
   patient have to turn
          blind.
Menzies Chen, Katherine Licon, Rei
Otsuka,     Lorraine     Pillus,    Trey
Ideker. Decoupling     Epigenetic   and
Genetic Effects through Systematic
Analysis of Gene Position.Cell Reports,
2013; DOI: 10.1016/j.celrep.2012.12.003
- Histones are the basic
component         of      the
chromatin.
-   Both     DNA          and
histones,    define       the
landscape    of        certain
genes.
Epigenetic                   Alteration
Mix of histones                Gene identity   in genes
                  material
                                               expresion.
- It was made a prove which consisted on inserting the gene in different
locations of chromatine.
- Experimental model: Yeast chromosome 1.
Student comment.




I consider epigenomics help
 us to discover how can the
 environment affect some
genes expression, and how
    can they produce a
mutation, giving us tools to
  prevent those diseases
Medical utility




Student comment.
                    New theory



                   We’ll be able to understand
                   easier the causes of retinal and
                   eye diseases in general, and
                   their development.
Medical utility




Student comment.   New theory


                   New treatments and cures based
                   on   the   theory    of   the   high
                   concentration of rhodopsin in
                   discs, will treat in a better way
                   patients   with     eye   diseases,
                   evoiding getting blind.
Medical utility




Student comment.



                   New theory




                           Tools to make more
                           researches   about
                           genes.
Medical utility




Student comment.



                        New theory




                   Will help us understanding how genes
                   work, and to make a relation between their
                   location and themselves, and how can
                   diseases appear and work depending on
                   their chromatin ‘environment’.
•· [Http://sciencedaily.com/releases/2013/01/130103130756.htm]   Checked
on January 29th of 2013, 22:50. “In Epigenomics, Location Is Everything:
Researchers Exploit Gene Position to test: ‘Histone Code’”


•· [http://sciencedaily.com/releases/2013/01/130122122403.htm] Checked on
January 29th of 2013, 22:32. “Study of How Eye Cells Become Damaged Could
Help Prevent Blindness:”
 
“Be determined, hug life and
live with passion.
Lose with class and win with
courage.
The World belongs to those who
face no fear and life is too
valuable to feel insignificant.”

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Preventing blindness with damaged cells studies; and how the location and histone code influence in Epigenomics. Molecular biology folding.

  • 1. Preventing blindness with damaged cells studies; and how the location and histone code influence in Epigenomics. Camilo Arias Rodríguez Medical student.
  • 3.
  • 4. Introduction Epigenetics: Non genetic factors influencing DNA structure. Eye as a focus of degenerative diseases, leading to blindness. Research as a way to understand, solve and improve.
  • 5. Mohammad Haeri, Barry E. Knox, Aphrodite Ahmadi.Modeling the Flexural Rigidity of Rod Photoreceptors.Biophysical Journal, 2013; 104 (2): 300 DOI:
  • 6. Average photoreceptor: -Cilyndrical shape. - Outer segment. - Discs. - Function: To convert light into chemical and electric signals.
  • 7. Closer eye cell structure. Discs of the outer segment are vulnerable to damage and breakage (mutations). Because of rhodopsin high concentration.
  • 8. High density bands High rhodopsin concentration Vulnerable to damage and Low density bands breakage. Average rhodopsin Degenerative diseases Flexible and concentration can lead easily to steady. blindness.
  • 9. Student comment I think the mutation in the photoreceptors discs, can be used as a diagnosis help, to define how many risks does a patient have to turn blind.
  • 10. Menzies Chen, Katherine Licon, Rei Otsuka, Lorraine Pillus, Trey Ideker. Decoupling Epigenetic and Genetic Effects through Systematic Analysis of Gene Position.Cell Reports, 2013; DOI: 10.1016/j.celrep.2012.12.003
  • 11. - Histones are the basic component of the chromatin. - Both DNA and histones, define the landscape of certain genes.
  • 12. Epigenetic Alteration Mix of histones Gene identity in genes material expresion.
  • 13. - It was made a prove which consisted on inserting the gene in different locations of chromatine. - Experimental model: Yeast chromosome 1.
  • 14. Student comment. I consider epigenomics help us to discover how can the environment affect some genes expression, and how can they produce a mutation, giving us tools to prevent those diseases
  • 15. Medical utility Student comment. New theory We’ll be able to understand easier the causes of retinal and eye diseases in general, and their development.
  • 16. Medical utility Student comment. New theory New treatments and cures based on the theory of the high concentration of rhodopsin in discs, will treat in a better way patients with eye diseases, evoiding getting blind.
  • 17. Medical utility Student comment. New theory Tools to make more researches about genes.
  • 18. Medical utility Student comment. New theory Will help us understanding how genes work, and to make a relation between their location and themselves, and how can diseases appear and work depending on their chromatin ‘environment’.
  • 19. •· [Http://sciencedaily.com/releases/2013/01/130103130756.htm] Checked on January 29th of 2013, 22:50. “In Epigenomics, Location Is Everything: Researchers Exploit Gene Position to test: ‘Histone Code’” •· [http://sciencedaily.com/releases/2013/01/130122122403.htm] Checked on January 29th of 2013, 22:32. “Study of How Eye Cells Become Damaged Could Help Prevent Blindness:”  
  • 20. “Be determined, hug life and live with passion. Lose with class and win with courage. The World belongs to those who face no fear and life is too valuable to feel insignificant.”