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terapi gen kelainan genetik genetic disorders treatment

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sekilas pengenalan secara umum mengenai terapi untuk kelainan genetik. genetic disorders therapy, terapi kelainan bawaan, terapi penyakit autoimun, rekayasa genetik

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terapi gen kelainan genetik genetic disorders treatment

  1. 1. Hendrik Sutopo 1
  2. 2. Current Therapy of Genetic Disorders  Preventive  Metabolic Manipulation  Gene Product Replacement  Cell or Organ Transplantation  Somatic Gene Therapy 2
  3. 3. Therapy of Genetic Disorders  Preventive Therapy  Prenatal diagnosis  Preimplantation diagnosis  Preventive screening for disease onset 3
  4. 4. Therapy of Genetic Disorders  Metabolic Manipulation  Dietary restriction ○ Lactose restriction for Lactase deficiency; phenylalanine restriction for PKU  Dietary Supplementation ○ Vitamin C for Scurvy, Biotin for Biotinidase deficiency, Starch for G- 6-P deficiency  Chelation and enhanced excretion ○ copper chelation for Wilson Disease  Metabolic inhibitors ○ allopurinol for gout, Statins for hypercholesterolemia 4
  5. 5. Therapy of Genetic Disorders  Gene Product Therapy  Hormone, protein or enzyme replacement ○ Hormone supplementation:  Hypothyroidism: thyroid  Congenital adrenal hyperplasia: cortisol  Growth hormone ○ Hemophilia; clotting factors ○ Diabetes: insulin ○ Enzyme replacement  Beta glucosidase : Gauchers  Alpha glucosidase: Pompe  Adenosine deaminase (PEG): ADA- SCID 5
  6. 6. Somatic Gene Therapy Introduction of recombinant genes into somatic cells to treat genetic or acquired disease • applicable to any disease with molecular basis of pathogenesis • currently does not involve removal, repair or site-specific replacement of mutant genes • need repetitive therapy • All gene therapy so far in people has been directed at somatic cells 6
  7. 7. The Beginning…  In the 1980s, Scientists began to look into gene therapy.  They inserted human genes into a bacteria cell.  Then the bacteria cell would transcribe and translate the information into a protein  Then they would introduce the protein into human cells 7
  8. 8. The First Case  The first gene therapy was performed on September 14th, 1990  Ashanti DeSilva was treated for SCID ○ Sever combined immunodeficiency  Doctors removed her WBC ○ inserted the missing gene into the WBC, then ○ put them back into her blood stream.  This strengthened her immune system  worked for a few months 8
  9. 9. Real treatments performed with retroviral system Severe Combined Immunodoficiency (SCID) Mutation on Chromosome 20 is often to blame 9
  10. 10. How It Works http://encarta.msn.com/media_461561269/Gene_Therapy.html 10
  11. 11. Real treatments performed with retroviral system Problems: • not cure of the disease • maintenance of venous access to administer the therapy • shortage • cost • requirement of frequent, repeated administrations • allergic, inflammatory and immune responses to the infused materials • • … 11
  12. 12. Future Treatments  Stem Cells  Therapeutic Cloning  Advanced IVF Techniques  Gene Therapies 12
  13. 13. Jonathan Winters 13
  14. 14. ..Adult Stem Cells •Stem cell collected from adult can be harvested from many area including the bone marrow. •Alternative to Embryonic Stem cells •Potential to reverse and cure Diabetes 14
  15. 15. ..Embryonic Stem Cells •Use undifferentiated cell from embryos and cultures them to grow into need cells •Neurons Grown from Embryonic Stem Cells Restore Function in Paralyzed Rats •Hold potential cures for 1000s of diseases many genetic disorders. •Many ethical and social concerns surrounding this research 15
  16. 16. 16
  17. 17. ..Therapeutic Cloning •Using stem cells to replace or create tissues and organs •Currently heart tissues and full bladders are being grow in lab Fig. Stem cell treatments and tissues recreated in the heart of a child 17
  18. 18. Advanced IVF Techniques •This treatment is aimed at women who would pass on a genetic defect to the child. •Also helps women who suffer with mitochondria disease. •Faulty genes are removed from the embryo, and replaced by healthy genes from the additional woman. 18
  19. 19. 19
  20. 20. Ethical Issues  Who decides what diseases to cure?  Who will have access to therapy?  Is it interfering with God’s plan?  Is it alright to use the therapy in the prenatal stage of development in babies? Courtesy of www.cbs.dtu.dk 20
  21. 21. 21
  22. 22. 22 all Inherited and acquired disorders cancer AIDS/HIV
  23. 23. The Bubble Boy  In 2002, then 18-month-old Rhys Evans received one of the first successful gene therapy treatments for a genetic disorder, which cured his severe combined immunodeficiency (SCID). Courtesy of news.bbc.co.uk 23
  24. 24. Major Advancements  2002- Scientists are able cure children of SCID.  2003- Researchers are able to insert genes to the brain, opening up a wider variety of diseases that could be cured.  2006- Successfully treat two cancer patients. 24
  25. 25. 25
  26. 26. Gene therapy could be very different for different diseases • Gene transplantation (to patient with gene deletion) • Gene correction (To revert specific mutation in the gene of interest) • Gene augmentation (to enhance expression of gene of interest) • Change the regulation of gene repairs 26
  27. 27. Target sites for gene therapy 27
  28. 28. 28 Gene Transfer Transcription (nucleases) Exogenous DNA + vector (viral) Cytosol Endosome Lysosome Protein expression
  29. 29. Vectors in gene transfer: Viruses Retroviruses Adenoviruses Adeno-associated viruses Envelope protein pseudotyping of viral vectors Non-viral methods Naked DNA Oligonucleotides Lipoplexes and polyplexes Hybrid methods 29
  30. 30. 30
  31. 31. 31
  32. 32. 32
  33. 33. 33 Retrovirus Engineering From: Alberts et al. Molecular Biology of the Cell
  34. 34. The Gene Therapy Process 1. A desired gene is selected and inserted into a genome to replace an “abnormal”, disease-causing gene. 2. The genome is then transferred into a vector, most commonly an adenovirus, which will transport the gene into the patient. 3. The vector is sent to a target cell in the patient’s genome and then “unloads” the genetic material in the virus. 4. Once the genetic material has been inserted into the target cell, the cell will continue its reproductive cycle with the new therapeutic gene . This will cause new generations of cells with the integral therapeutic gene which will cure the desired disease in the patient. 1 2 3 4 34
  35. 35. Non viral vectors  Un complexed plasmid DNA  DNA coated gold particles  Liposomes  DNA – protein conjugates 35
  36. 36. Injections of naked DNA 36
  37. 37. Gene Transfer techniques 37
  38. 38. 38
  39. 39. 39
  40. 40. 40
  41. 41. Problems with Gene Therapy  Difficult to integrate desired DNA into a genome.  Effects are usually temporary  Immune system automatically attacks foreign objects reduce effects of gene therapy.  The possibility of the modified adenovirus to revert back to its harmful state.  In rare cases therapy has induced tumors  leukemia (if integrated in a tumor suppressor gene because insertional mutagenesis)  Multigene Disorders  Heart disease, Hypertension, Alzheimer’s, arthritis, diabetes : hard to treat  Until today : Efficacy in any gene therapy protocol not definitive. 41
  42. 42. Problems with Gene Therapy  Economic :  Funding for therapy fluctuates with rise and fall of success.  Most funding in government research, + $400 million a year.  Difficult to afford and can’t be covered by insurance.  Economic market : something new?  Ethic?  Law? Courtesy of dir.nichd.nih.gov 43
  43. 43. Current Status  FDA hasn’t approved any human gene therapy product samples:  18-year-old Jesse Gelsinger died from multiple organ failure 4 days after treatment   Death was triggered by severe immune response to adenovirus carrier  January 2003, halt to using retrovirus vectors in blood stem cells because children developed leukemia-like condition after successful treatment for X-linked SCID  Inadequate understanding of biological interactions of vector and host. 44
  44. 44. Current Status  The Future treatment for genetic disorders is Experimental (incld. Gene Therapy)  It is not currently available outside a clinical trials 45
  45. 45. QUESTIONS ?? 46

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