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. 

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.