Renal and Vascular Research

Main Research: Renal and Vascular Research

Term: 01.01.2023 – 30.06.2025

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.

Dr. Alina Hilger

Kinder- und Jugendklinik