ISN-KDIGO Webinar: Genomics and Genetics in CKD

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, APOL1 mediated CKD has been targeted by a series of drug developmental efforts and the repurposing of existing drugs targeting are now in clinical trials.

In the future, genomics and genetics may be used to develop personalized treatment plans for patients with CKD based on their genetic and molecular profile. It is an exciting area of research that has the potential to greatly improve our understanding and treatment of CKD.

Learning objectives: 

Review clinical features of 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