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folding molecular biology

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Ana Guti
Ana Guti

This document summarizes two scientific studies on chromosome defects and genetic diseases. The first study discovered a chromosome therapy technique to correct severe chromosome defects by replacing an abnormal ring chromosome with a normal duplicated chromosome in stem cells. This could help repair birth defects. The second study found that analyzing chromatin architecture, the organization of DNA and proteins in chromosomes, could help identify regulatory DNA anomalies and better diagnose genetic diseases, since DNA sequencing alone is insufficient. This discovery paves the way for improved understanding and diagnosis of many genetic conditions.

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STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT AND IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES MOLECULAR BIOLOGY TEACHER: LINA MARTINEZ ANA MARA GUTIRREZ MEDICAL STUDENT III SEMESTER 2014 PONTIFICIA BOLIVARIANA UNIVERSITY
FOLDING
FOLDING
INTRODUCTION All eukaryotes cells have a defined nucleus, inside there in humans exist 46 pars of chromosomes, whose are responsible of the genetic information. The propose of genetic engineer is the control and transfer of DNA to improve the humans defect and other problems. Some problems who have had the genetic engineer to grow up is the ethic implications to comes with the experimental process, and the complication which may comes with this practice
NEWS 1 STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT Jan. 13, 2014
NEWS 1 In the future the objective is to remove the defective chromosome and replace it with a normal chromosome A normal chromosome is linear, they are protected in the end for the telomeres, they functions are: Prevents degradation of DNA ending Stop fusion with other chromosomes Facilitates duplication without losing the endings The defect analyzed in this study was the ring chromosome, is rare genetic defect. with ring chromosomes, the two ends of the chromosome fuse together, forming a circle. This fusion can be associated with large terminal deletions. All the people with ring chromosome have many birth problems ,the principal is the short stature because of the problems with cell division
NEWS 1 Deletions can result in disabling genetic disorders, if the genes in the deletion are necessary for normal cellular functions Induced pluripotent stem cells are a type of pluripotent stem cell that can be generated directly from adult cells. they can propagate indefinitely, as well as give rise to every other cell type in the body Results: Researchers observed that, after reprogramming, the ring chromosome 17 that had the deletion vanished entirely and was replaced by a duplicated copy of the normal chromosome 17.
NEW 1 It is only possible to do this chromosome therapy for cells in culture, not in human beings. It may be useful to use this for tissue repair of birth defects and other abnormalities found in individuals with chromosomal defects as techniques for regenerative medicine are developed in the future. These reprogrammed was did in ring chromosome 13 too, cells also lost the ring chromosome, and contained a duplicated copy of the normal chromosome 13.
OBSERVATION 1 Individuals with ring chromosomes may display a variety of birth defects, but nearly all persons with ring chromosomes at least display short stature due to problems with cell division. This study search with a genetic therapy substitute an abnormal chromosome for a corrected. The ring chromosomes is a rare pathology , but if that scientists gets replace for a normal chromosome they could have an idea of how to substitute chromosomes for another pathologies more frequent like dawn syndrome, Edwards syndrome, fragile x syndrome ..., and avoid the complications for those who comes with these pathologies.
NEWS 2 IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES Jan. 16, 2014
NEWS 2 The DNA molecules are in all the cells in body into the nucleus, they are around the nucleosomes. The DNA and nucleosomes form the chromatin, which is the main component of chromosomes. This work stand out that the regulations of the genes are associated with three-dimensional organization of the chromatin The chromatin architecture, which varies according to the cell type.
NEWS 2 The chromatin structure have an important function in the control of gene activities In actually to the studying the causes of genetic diseases usually the laboratories use DNA sequencing and the analysis of gene sequences. This study found another form to identify anomaly in the DNA sequences that control the genes. And with the previous methods this couldnt be done.
NEWS 2 This discovery paves the way for studying the mechanisms that control the architecture of chromatin should have a significant impact on identifying the causes and diagnosing genetic diseases. With this investigation the scientific could have an impact on a large number of genetic diseases
OBSERVATION 2 The possibility to identify regulatory DNA that controls a given gene facilitates the study of the chromatin architecture , that discovery will generate a large impact on the diagnosis of genetic diseases in a embryos. In the future when this technique improve the defects could be diagnosed in the pregnancy and solved to evade the complication for those who comes with a genetic disease.
MEDICAL UTILITY The diagnosis in embryo stage, with the technique based on analyzing chromatin architecture, gives a specific diagnostic and reduces the medical speculation. Opportunity to generate preventive measures and therapy treatment in early stage
MEDICAL UTILITY More probability to knows what was the causes who get the genetic disease The diagnosis is faster and precise Reduce the complications and risk for the baby in the time to analyzing their genes The reprogramming cellular could solve a different types of mutations, not only deletion pathologies also duplication, translocation and inversion
MEDICAL UTILITY Some pathologies affects and puts in risk the life of the baby, the idea in the future is to fix the abnormal chromosomes to solve this problem and they could have a normal life without complications. The reprogramming open the opportunity to remove variety of genetic birth defects Other use for the reprogramming different to the solve the genetic disorder is improve the quality of transplants to reduce rejection
MEDICAL UTILITY Other use is help normalize cellular functions suppressed In conclusion this technology could help the society to increase the quality of life, not only in the humans ,but also in animals and plants improving their capacities and qualities This technology could help to avoid the tumor proliferation
BIBLIOGRAPHY http://books.google.com.co/books?id=ZAqRrB07idgC&pg=PA173&dq=etica+en+ manipulacion+genetica&hl=es419&sa=X&ei=9knsUpbqAYf7kQep14CoBw&ved=0CCoQ6AEwAA#v=onepage& q=etica%20en%20manipulacion%20genetica&f=false http://sisbib.unmsm.edu.pe/bvrevistas/dermatologia/v09_sup1/biolog%C3%ADa% 20molecular%20.htm http://books.google.com.co/books?id=AGh8rK1MmOsC&pg=PA1270&dq=cromo soma+de+anillo&hl=en&sa=X&ei=CbnnUq7FELjsAT0moKICg&ved=0CDUQ6AEwAg#v=onepage&q=cromosoma%20de%20anill o&f=false MARTINEZ SNCHEZ, Lina Mar鱈a. Biolog鱈a molecular. 7 ed., Medell鱈n, UPB, 2012, p叩g 55.
folding molecular biology

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folding molecular biology

  • 1. STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT AND IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES MOLECULAR BIOLOGY TEACHER: LINA MARTINEZ ANA MARA GUTIRREZ MEDICAL STUDENT III SEMESTER 2014 PONTIFICIA BOLIVARIANA UNIVERSITY
  • 4. INTRODUCTION All eukaryotes cells have a defined nucleus, inside there in humans exist 46 pars of chromosomes, whose are responsible of the genetic information. The propose of genetic engineer is the control and transfer of DNA to improve the humans defect and other problems. Some problems who have had the genetic engineer to grow up is the ethic implications to comes with the experimental process, and the complication which may comes with this practice
  • 5. NEWS 1 STUDY DISCOVERS CHROMOSOME THERAPY TO CORRECT SEVERE CHROMOSOME DEFECT Jan. 13, 2014
  • 6. NEWS 1 In the future the objective is to remove the defective chromosome and replace it with a normal chromosome A normal chromosome is linear, they are protected in the end for the telomeres, they functions are: Prevents degradation of DNA ending Stop fusion with other chromosomes Facilitates duplication without losing the endings The defect analyzed in this study was the ring chromosome, is rare genetic defect. with ring chromosomes, the two ends of the chromosome fuse together, forming a circle. This fusion can be associated with large terminal deletions. All the people with ring chromosome have many birth problems ,the principal is the short stature because of the problems with cell division
  • 7. NEWS 1 Deletions can result in disabling genetic disorders, if the genes in the deletion are necessary for normal cellular functions Induced pluripotent stem cells are a type of pluripotent stem cell that can be generated directly from adult cells. they can propagate indefinitely, as well as give rise to every other cell type in the body Results: Researchers observed that, after reprogramming, the ring chromosome 17 that had the deletion vanished entirely and was replaced by a duplicated copy of the normal chromosome 17.
  • 8. NEW 1 It is only possible to do this chromosome therapy for cells in culture, not in human beings. It may be useful to use this for tissue repair of birth defects and other abnormalities found in individuals with chromosomal defects as techniques for regenerative medicine are developed in the future. These reprogrammed was did in ring chromosome 13 too, cells also lost the ring chromosome, and contained a duplicated copy of the normal chromosome 13.
  • 9. OBSERVATION 1 Individuals with ring chromosomes may display a variety of birth defects, but nearly all persons with ring chromosomes at least display short stature due to problems with cell division. This study search with a genetic therapy substitute an abnormal chromosome for a corrected. The ring chromosomes is a rare pathology , but if that scientists gets replace for a normal chromosome they could have an idea of how to substitute chromosomes for another pathologies more frequent like dawn syndrome, Edwards syndrome, fragile x syndrome ..., and avoid the complications for those who comes with these pathologies.
  • 10. NEWS 2 IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES Jan. 16, 2014
  • 11. NEWS 2 The DNA molecules are in all the cells in body into the nucleus, they are around the nucleosomes. The DNA and nucleosomes form the chromatin, which is the main component of chromosomes. This work stand out that the regulations of the genes are associated with three-dimensional organization of the chromatin The chromatin architecture, which varies according to the cell type.
  • 12. NEWS 2 The chromatin structure have an important function in the control of gene activities In actually to the studying the causes of genetic diseases usually the laboratories use DNA sequencing and the analysis of gene sequences. This study found another form to identify anomaly in the DNA sequences that control the genes. And with the previous methods this couldnt be done.
  • 13. NEWS 2 This discovery paves the way for studying the mechanisms that control the architecture of chromatin should have a significant impact on identifying the causes and diagnosing genetic diseases. With this investigation the scientific could have an impact on a large number of genetic diseases
  • 14. OBSERVATION 2 The possibility to identify regulatory DNA that controls a given gene facilitates the study of the chromatin architecture , that discovery will generate a large impact on the diagnosis of genetic diseases in a embryos. In the future when this technique improve the defects could be diagnosed in the pregnancy and solved to evade the complication for those who comes with a genetic disease.
  • 15. MEDICAL UTILITY The diagnosis in embryo stage, with the technique based on analyzing chromatin architecture, gives a specific diagnostic and reduces the medical speculation. Opportunity to generate preventive measures and therapy treatment in early stage
  • 16. MEDICAL UTILITY More probability to knows what was the causes who get the genetic disease The diagnosis is faster and precise Reduce the complications and risk for the baby in the time to analyzing their genes The reprogramming cellular could solve a different types of mutations, not only deletion pathologies also duplication, translocation and inversion
  • 17. MEDICAL UTILITY Some pathologies affects and puts in risk the life of the baby, the idea in the future is to fix the abnormal chromosomes to solve this problem and they could have a normal life without complications. The reprogramming open the opportunity to remove variety of genetic birth defects Other use for the reprogramming different to the solve the genetic disorder is improve the quality of transplants to reduce rejection
  • 18. MEDICAL UTILITY Other use is help normalize cellular functions suppressed In conclusion this technology could help the society to increase the quality of life, not only in the humans ,but also in animals and plants improving their capacities and qualities This technology could help to avoid the tumor proliferation
  • 19. BIBLIOGRAPHY http://books.google.com.co/books?id=ZAqRrB07idgC&pg=PA173&dq=etica+en+ manipulacion+genetica&hl=es419&sa=X&ei=9knsUpbqAYf7kQep14CoBw&ved=0CCoQ6AEwAA#v=onepage& q=etica%20en%20manipulacion%20genetica&f=false http://sisbib.unmsm.edu.pe/bvrevistas/dermatologia/v09_sup1/biolog%C3%ADa% 20molecular%20.htm http://books.google.com.co/books?id=AGh8rK1MmOsC&pg=PA1270&dq=cromo soma+de+anillo&hl=en&sa=X&ei=CbnnUq7FELjsAT0moKICg&ved=0CDUQ6AEwAg#v=onepage&q=cromosoma%20de%20anill o&f=false MARTINEZ SNCHEZ, Lina Mar鱈a. Biolog鱈a molecular. 7 ed., Medell鱈n, UPB, 2012, p叩g 55.