Potencial tehnologije CRISPR za zdravljenje genetskih bolezni

diplomsko delo

Monika Gregorič Tasić (Author), Jernej Ogorevc (Mentor)

Abstract

Predklinične raziskave na celičnih kulturah in živalih ter klinične študije na ljudeh so ključnega pomena pri razvoju novih zdravil ali terapij, saj z njimi ugotavljajo varnost, izvedljivost in učinkovitost ter možne neželene stranske učinke terapij. Tehnologija CRISPR je od leta 2012, ko so jo poimenovali za orodje za preurejanje genoma, doživela velik preboj. Gre za relativno enostavno tehnologijo, pri kateri tarčno mesto v genomu določimo z izbiro zaporedja vodilne RNA (sgRNA) molekule. Tehnologijo so začeli zelo hitro aplicirati za zdravljenje različnih genetskih bolezni pri ljudeh. Trenutno potekajo številne predklinične študije, s katerimi ugotavljajo možnosti zdravljenja različnih bolezni, npr. raka, cistične fibroze, mišične distrofije in mnogih drugih. Nekatere terapije so bile na predklinični stopnji uspešne, zato se izvajajo klinična testiranja, med drugimi za zdravljenje anemije srpastih celic in slepote. Večina kliničnih študij je še v teku, zato rezultati še niso objavljeni. Glede na znane rezultate kliničnih študij, se trenutno zdi, da smo najbližje zdravljenju anemije srpastih celic in beta-talasemije. Vzorčni primer uporabe tehnologije CRISPR za zdravljenje anemije srpastih celic je pacientka Victoria Gray, prav tako pa so zelo obetavni preliminarni rezultati zdravljenja slepote. V diplomski nalogi sem želela prikazati za katere bolezni se zdravljenje s tehnologijo CRISPR trenutno razvija in povzeti glavne ugotovitve predkliničnih in kliničnih študij.

Keywords

biotehnologija;CRISPR;CRISPR/Cas9;genetske bolezni;predklinične študije;klinične študije;celični modeli;živalski modeli;

Data

Language:	Slovenian
Year of publishing:	2022
Typology:	2.11 - Undergraduate Thesis
Organization:	UL BF - Biotechnical Faculty
Publisher:	[M. Gregorič Tasić]
UDC:	601.4:577.21:606:61(043.2)
COBISS:	125280515
Views:	18
Downloads:	5
Average score:	0 (0 votes)
Metadata:

Other data

Secondary language:	English
Secondary title:	Potential of CRISPR technology for genetic disease treatment
Secondary abstract:	Preclinical studies in cell cultures and animals, as well as clinical trials in humans, are an essential part of the development of new drugs or therapies because they determine safety, feasibility and efficacy, while also indicating potential adverse side effects of the therapies. Since its designation as a gene-editing tool in 2012, CRISPR technology has made significant breakthroughs. It is a relatively simple editing technology in which the target site in the genome is determined by the sequence of the single guide RNA molecule (sgRNA). The technology has been rapidly applied to treat numerous human genetic diseases. Numerous preclinical studies are currently underway to test the treatment potential for various diseases, such as cancer, cystic fibrosis, muscular dystrophy and many others. Therapies that have been successful in the preclinical phase have made their way into clinical trials, including the treatment of sickle cell anemia and the treatment of blindness. Most of the clinical trials are still ongoing, meaning that the results have not yet been published. Based on the results of the clinical trials, treatment of sickle cell anemia and beta thalassemia seems most likely in the near future. Promising examples of CRISPR-based treatments include the case of Victoria Gray and the preliminary results in the treatment of blindness. In my bachelor thesis I aimed to show for which diseases CRISPR-based treatments are most developed and to summarize the main results of preclinical and clinical studies.
Secondary keywords:	biotechnology;genetic diseases;preclinical studies;clinical trials;cell models;animal models;
Type (COBISS):	Bachelor thesis/paper
Study programme:	0
Embargo end date (OpenAIRE):	1970-01-01
Thesis comment:	Univ. v Ljubljani, Biotehniška fak., Študij biotehnologije
Pages:	1 spletni vir (1 datoteka PDF (VIII, 22 f.))
ID:	16429386