Primjena genske terapije kod hemoglobinopatija

undergraduate thesis

• Title (english): Application of gene therapy in hemoglobinopathies
• Author: Ana Vujić
• Mentor: Petra Korać (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2017-09-18, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Hemoglobinopatije su jedne od najčešćih monogenskih nasljednih bolesti na svijetu. Dijele se na talasemije i bolesti strukturnih varijanti hemoglobina. U genskoj terapiji kod hemoglobinopatija razlikuju se dva osnovna pristupa: ugradnja globinskih gena i uređivanje globinskih gena i globinskih regulacijskih elemenata. Klinička istraživanja na ljudima su zasad ograničena na pristup ugradnje globinskih gena koji je kod pacijenata s β-talasemijom i srpastom anemijom pokazao pozitivne rezultate. Primjena uređivanja globinskih gena i globinskih regulacijskih elemenata je ograničena na istraživanja na miševima i ljudskim stanicama u kulturi, ali rezultati pokazuju njihovu moguću primjenu u liječenju. U ovom radu dan je kratak pregled osnovnih tehnika koje se koriste u spomenutim pristupima kao i rezultata studija i kliničkih istraživanja koja su dovela do njihovog napretka. Također, izloženi su nedostaci i prednosti oba pristupa te prepreke koje se moraju prijeći da bi genska terapija kao način liječenja hemoglobinopatija postala ostvariva.

Abstract (english)

Hemoglobinopathies are one of the most common inherited monogenic diseases in the world. Two main groups of hemoglobinopathies are thalassemia syndromes and structural hemoglobin variants. In gene therapy for the treatment of hemoglobinopathies there are two main approaches: globin gene addition and gene editing of globin gene and globin regulatory elements. For now, clinical trials on humans are limited on globin gene addition which showed positive results in patients with β-thalassemia and sickle cell anemia. Use of gene editing of globin gene and globin regulatory elements are limited on trials on murine models and human cells in culture. However, results show their possible application in therapeutic purposes. In this paper brief review of basic techniques that are used in both approaches is given as well as description of studies and clinical trials that led to their progress. The main advantages and disadvantages of both approaches and obstacles that must be overcome to make gene therapy the way of treatment for hemoglobinopathies achievable option are also discussed.

• Keywords: hemoglobinopatije; genska terapija
• Keywords (english): hemoglobinopathies; gene therapy
• Language: croatian
• URN:NBN: urn:nbn:hr:217:950905
• Study programme: Title: Ecology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-10-19 11:51:42