Learning objectives:
Review clinical features of Autosomal dominant polycystic kidney disease (ADPKD)
Highlight role of germline and somatic mutations of PKD1, PKD2, and other cystic disease genes in modulating disease variability
Illustrate the potential utility of Next Generation Sequencing (NGS) in advancing clinical prognostication in ADPKD
Identify ways to define kidney disease using genetic and genomic tools
Evaluate strategies to use this knowledge for patient stratification
Assess ongoing precision medicine trials in nephrology
Genomics and genetics play an important role in Chronic Kidney Disease (CKD). There are several genes that have been identified as being associated with the development and progression of CKD. For example, variants in the APOL1 gene have been linked to an increased risk of CKD in African Americans. Additionally, mutations in the PKD1 and PKD2 genes can cause Polycystic Kidney Disease (PKD), which is a genetic disorder that can lead to CKD.
Recent advances in genomics and genetics have opened up new avenues for understanding the underlying mechanisms of CKD and identifying new potential drug targets. For example, researchers are now able to use genome-wide association studies (GWAS) to identify regions of the genome that are associated with the risk of CKD.
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