Biobanka tkiva i stanica pacijenata s rijetkim nasljednim bolestima u Hrvatskoj

master's thesis

• Title (english): Tissues and cells biobank of patients with rare hereditary diseases in Croatia
• Author: Marija Zekušić
• Mentor: Ksenija Fumić (mentor)
• Mentor: Inga Marijanović (mentor)
• Committee member: Inga Marijanović (predsjednik povjerenstva)
• Committee member: Vesna Benković (član povjerenstva)
• Committee member: Damjan Franjević (član povjerenstva)
• Committee member: Maja Matulić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2015-11-25, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

U Odjelu za laboratorijsku dijagnostiku nasljednih metaboličkih bolesti Kliničkog bolničkog centra Zagreb već dugi niz godina sakupljaju se, izoliraju, analiziraju, skladište i distribuiraju različite vrste bioloških uzoraka (kožni fibroblasti, skeletni mioblasti i različiti humani bioptati pacijenata s rijetkim nasljednim metaboličkim bolestima). Stanične kulture fibroblasta i mioblasta daju mogućnosti proučavanja in vitro brojnih svojstava stanica vezivnog tkiva i mišićnih stanica što je izrazito važno za razjašnjavanje brojnih prirođenih i stečenih bolesti, za razumijevanje fizioloških zbivanja u organizmu kao i preduvjet za proučavanje brojnih lijekova. Biološki uzorci se skladište u različite biobanke i nephodni su za dijagnostiku i istraživanje u bilo kojem medicinskom području a posebno u području rijetkih bolesti. Na razini EU uočene su velike razlike u provedbi važećih direktiva, što predstavlja dodatni problem u iskoristivosti uzoraka pohranjenih u biobankama te posljedično umanjuje javnu zdravstvenu korist tih zbirki. Zato se u ovom diplomskom radu opisuje optimizacija metoda prikupljanja, uzgoja, skladištenja i raspodjele humanih fibroblasta, skeletnih mioblasta te bioptata mišića koji u Hrvatskoj otvaraju nove mogućnosti dijagnostike i istraživanja s krajnjim ciljem stvaranja preduvjeta za osnivanje biobanke tkiva i stanica za rijetke bolesti kao i usklađivanje biobanke s europskom biobankom.

Abstract (english)

Different types of biological samples (skin fibroblasts and skeletal myoblasts, different human biopsy specimens of patients with rare inherited metabolic diseases) have been collected, isolated, analyzed, stored and distributed for many years in Clinical Unit for Hereditary Metabolic Diseases, Department of Laboratory Diagnostics, University Hospital Center Zagreb. Fibroblast and myoblast cell cultures provide the possibility of in vitro research of numerous properties of connective tissue and muscular cells, which is particularly important in elucidating many congenital and acquired diseases, for understanding of physiological processes in the body, and as a precondition for studying many medications. Biological samples are stored in different biobanks and are necessary for diagnostics and research in every medical field, particularly in the field of rare diseases. At EU level, considerable differences have been observed in implementation of applicable directives, which is an additional problem in utilization of samples stored in biobanks and which consequently reduces public health benefits from such sample collections. For this reason, this graduation thesis describes optimization of methods for collection, culture, storage, and distribution of human fibroblasts, skeletal myoblasts and muscle biopsy specimens which open in Croatia new possibilities for diagnostics and research with the ultimate goal of creating preconditions for founding a tissue and cell biobank for rare diseases and its harmonization with European biobank.

• Keywords: skeletni mioblasti; kožni fibroblasti; laboratorijska dijagnostika
• Keywords (english): skeletal myoblasts; skin fibroblasts; laboratory diagnostic
• Language: croatian
• URN:NBN: urn:nbn:hr:217:477670
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-04-24 09:40:10