J098: Systematic identification and characterization of disease genes for urorectal Malformations

FAU own research funding: EFI / IZKF / EAM ...


Start date : 01.01.2023

End date : 30.06.2025

Project details

Scientific Abstract

Congenital urorectal malformations are rare birth defects with serious consequences for those affected. Still, the genetic causes of which have been little researched to date. The aim of this study is to identify candidate genes for these malformations by exome sequencing and copy number analysis, to re-sequence them by next generation sequencing in a cohort of about 1100 patients and to characterise them in the zebrafish model by Morpholino oligonucleotide knockdown and CRISPR/Cas9 knockout.

Involved:

Alina Hilger Project Leader Tilman Jobst-Schwan Project Member

Contributing FAU Organisations:

Interdisziplinäres Zentrum für Klinische Forschung (IZKF) Department of Paediatrics and Adolescent Medicine Department of Medicine 4 – Nephrology and Hypertension Medizinische Fakultät

Research Areas

Microscope SVG Junior Projects Field of Research