Laura H. Mariani

This study maps allele-specific expression in human kidney disease, finding increased glomerular ASE associated with better disease outcomes.

The paper generates disease-specific genetic effect maps on the blood transcriptome for five glomerular diseases using whole genome and transcriptome sequencing data from the CureGN cohort.

The paper creates a high-resolution cellular atlas of healthy and injured kidney cell states and niches using single-cell and spatial technologies, identifying molecular signatures and pathways related to kidney injury.

The paper identifies shared molecular pathways between ANCA-associated vasculitis and nephrotic syndrome, highlighting JAK-STAT signaling as a potential therapeutic target.