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Proposals | Overview

Nephrotic syndrome (NS)

NIH Grant Research Aims:

  • Discover the missing single-gene causes of SRNS by WES in ~1,000 SRNS families.
  • Functionally characterize newly identified single-gene causes of SRNS/SSNS to delineate the pathogenesis and study ‘personalized’ genotype-phenotype and genotype-treatment correlations.
  • Perform small molecule screens in CRISPR k.o. models of novel SRNS genes identified, using established ‘podocyte migration assay’ and zebrafish models, to discover the first drugs for SRNS.

Nephronophthisis (NPHP)

NIH Grant Research Aims:

  • Identify and functionally characterize the missing components of NPHP-related ciliopathies by whole exome/genome sequencing, CNV and mRNAseq analysis in ~1,500 families with NPHP-RC.
  • Characterize disease mechanisms for the newly identified NPHP-RC genes MAP7D3 and TTC28 that participate in a shared centrosomal module.
  • Utilize zebrafish models for allele validation, to delineate pathogenic pathways, and to develop first treatment options for NPHP-RC.

Congenital anomalies of the kidneys and urinary tract (CAKUT)

NIH Grant Research Aims:

  • Discover further high-penetrance human CAKUT genes by WES, WGS, CNV, transcriptome, and candidate gene analysis in >938 CAKUT families.
  • Delineate new pathogenic pathways for the newly discovered CAKUT gene ZMYM2.
  • Delineate novel disease mechanisms for the newly discovered CAKUT gene PLXNB2.