PrecisionNephrology.org
Proposals (Grants)
List of Services
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Nephrotic Syndrome (NS)List Item 2
NIH Grant Reseach 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.
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Nephronophthisis (NPHP)List Item 3
NIH Grant Reseach 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.
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Congenital anomalies of the kidneys and urinary tract (CAKUT)
NIH Grant Reseach 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.