Modeling human diseases resulting from the mutations of the RECQL4 gene

Eötvös Loránd Tudományegyetem

Biológia Doktori Iskola

Varga Máté

Kovács Mihály

biológiai tudományok

The goal of the proposed work is to create and characterize zebrafish models of human diseases resulting from the mutations of the RECQL4 gene (such as Baller-Gerold syndrome, Rothmund-Thomson syndrome and RAPADILINO syndrome). During her/his work the candidate will combine state-of-the-art gene editing methods and sequencing technologies with modern imaging techniques and mitochondrial functional studies. The aim of the work is to reveal how mutations in RECQL4 contribute to human disorders with such a broad phenotypic spectrum.

1 fő

ELTE Eötvös Loránd University, Department of Genetics and Department of Biochemistry

2025-05-31

English

We expect the successful candidate to have basic molecular biology skills, previous experience with using model animals (preferably zebrafish) to model human disease.