Nove spoznaje genomske patologije u djece

master's thesis

• Title (english): New knowledge of genomic pathology in children
• Author: Marijana Udovičić
• Mentor: Mario Ćuk (mentor)
• Committee member: Katja Dumić Kubat (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Mario Ćuk (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

U svijetu moderne medicine, savjetovanje i testiranje na genetskoj razini postaju sve relevantniji, posebno kada se radi o genetskim bolestima koje pogađaju djecu. Interpretaacija genetskih podataka zahtijeva duboko razumijevanje i stručnost, s posebnim osvrtom na potencijalne rezultate testiranja. Izazovi vezani uz etiku i pravo sve su prisutniji u kontekstu genetskog testiranja, osobito s obzirom na mogućnost otkrivanja slučajnih nalaza koji mogu ukazivati na predispozicije za razne bolesti.

Genomika, disciplina koja se bavi istraživanjem genetskih promjena koje uzrokuju bolesti, postaje ključna, posebno u području pedijatrije. S razvojem tehnologija sekvenciranja nove generacije (NGS), moguće je postići brže i preciznije dijagnoze, što mijenja pristup dijagnostici genetskih bolesti.

Poseban fokus je na rijetkim bolestima koje utječu na djecu. Iako su ove bolesti relativno česte, u općoj populaciji se smatraju rijetkima jer negativno utječu na reproduktivnu sposobnost. Napredak u tehnologiji i metodologiji omogućio je značajne pomake u ovom području, povećavajući mogućnosti za postavljanje genetske dijagnoze, čak i za rijetka i ultra-rijetka stanja. Genomika ima sposobnost pružiti duboko razumijevanje ovih neuobičajenih bolesti i pružiti temeljne uvide u biološke procese, što brzo mijenja način pružanja medicinske skrbi ovim bolesnicima i njihovim obiteljima.

Abstract (english)

In the world of modern medicine, counseling and testing at the genetic level are becoming more and more relevant, especially when it comes to genetic diseases that affect children. Interpretation of genetic data requires deep understanding and expertise, with particular reference to potential test results. Challenges related to ethics and law are increasingly present in the context of genetic testing, especially with regard to the possibility of discovering accidental findings that may indicate predispositions to various diseases.

Genomics, the discipline that deals with the study of genetic changes that cause disease, is becoming crucial, especially in the field of pediatrics. With the development of next-generation sequencing (NGS) technology, it is possible to achieve faster and more accurate diagnoses, which changes the approach to the diagnosis of genetic diseases.

There is a special focus on rare diseases that affect children. Although these diseases are relatively common, they are considered rare in the general population because they negatively affect reproductive capacity. Advances in technology and methodology have enabled significant advances in this field, increasing opportunities for genetic diagnosis, even for rare and ultra-rare conditions. Genomics has the ability to provide a deep understanding of these uncommon diseases and provide fundamental insights into biological processes, which is rapidly changing the way medical care is delivered to these patients and their families.

• Keywords: genom; cijelogenomsko istraživanje; pedijatrija; sekvenciranje genoma
• Keywords (english): genome; whole genome sequencing; pediatrics; genome sequencing
• Language: croatian
• URN:NBN: urn:nbn:hr:105:396600
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-11-02 11:29:49