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
- E-Mail: alina.hilger@uk-erlangen.de
Main Research: Renal and Vascular Research T
erm: not started yet
Vascular impairment plays a key role in kidney pathologies. ULM enables microvascular assessment up to the scale of a single renal glomerulus. We will translate our established ULM pipeline into key pathologies affecting renal vascular integrity and glomerular count. Data acquisition in phantoms, pediatric and adult patients will be followed by computational data integration across pathologies and time to ultimately establish non-invasive ULM biomarkers for vascular impairment in kidney disease.
Dr. Henriette Mandelbaum
Kinder- und Jugendklinik