GENE THERAPY AN INTRODUCTION Agustina Setiawati, M.Sc., Apt.

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1 GENE THERAPY AN INTRODUCTION Agustina Setiawati, M.Sc., Apt

2  2 sks  12 kali pertemuan  USIP 40%, UAS 40%, Tugas/Kuis 20%

3 DEFINITION Terapi gen merupakan teknik yang digunakan untuk membenarkan gen yang rusak yang menyebabkan terjadinya suatu penyakit

4 What’s gene therapy?  Imagine that you accidentally broke one of your neighbor's windows. I.Stay silent: no one will ever find out that you are guilty, but the window doesn't get fixed. II.Repair it with some tape: not the best long-term solution. III.Put in a new window: not only do you solve the problem, but also you do the honorable thing.. So, if a flawed gene caused our "broken window," can you "fix" it? What are your options? I.Stay silent: ignore the genetic disorder and nothing gets fixed. II.Try to treat the disorder with drugs or other approaches: depending on the disorder, treatment may or may not be a good long-term solution. III.Put in a normal, functioning copy of the gene: if you can do this, it may solve the problem!

5 DOGMA CENTRAL

6 DNA EUKARIOT

7 DNA Cytoplasm Nucleus Eukaryotic Transcription Export G AAAAAA RNA Transcription Nuclear pores G AAAAAA RNA Processing mRNA

8 Disease that was cured by Gene Therapy

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12 Pendekatan Terapi Gen  Memasukkan gen normal pada lokasi non-spesifik  Menghapus fungsi gen abnormal  terapi antisense  Memperbaiki fungsi gen abnormal melalui reverse-mutasi yg selektif

13 What is reverse mutation? + - WT, active + + Mutasi - mjd + Mutant, inactive + - WT, active Same site revertant + - Mutate + to - WT ? active different site revertant

14 1. Penelitian awal : menyisipkan gen normal ke dalam genom utk menggantikan gen yg rusak/abnormal 2. Molekul pembawa (vektor) membawa gen terapetik ke dalam sel target pasien. 3. Vektor yg paling umum adalah VIRUS, yg dapat memasukkan DNA/RNA ke dalam sel manusia Prinsip Kerja Terapi Gen?

15 1.Memampukan manusia mempunyai anak tanpa ‘konsepsi’ 2.Menyembuhkan penyakit berbahaya tanpa menimbulkan rasa sakit. 3.Mencegah penyakit genetik berdasarkan sex/gender 4.Meningkatkan ‘penerimaan’ organ hasil transplantasi Keuntungan Terapi Gen

16 Kelemahan terapy gen  Keamanan- resiko efek genetik detrimental  Berbahaya karena menimbulkan 'genetic reductionism'

17 Type of Human Gene Therapy 1. Somatic Gene Therapy In vivo & Ex vivo 2. Germline Gene Therapy

18 SOMATIC GENE THERAPY “ Transfer material genetic to the body cells except germline” GERMLINE GENE THERAPY “ Involve genetic modification of germ cells”

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20 Any question?

21 THANK YOU