Renal and Vascular Research
J98: Alina Hilger, Department of Pediatrics and Adolescent Medicine
Detecting disease genes in urorectal malformations
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.
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| Principal Investigator Dr. Alina Hilger e-mail: Alina.Hilger@uk-erlangen.de |