Model organisms for functional validation in genetic renal disease

TL;DR

This paper reviews how model organisms like mice, zebrafish, and frogs help scientists study kidney diseases and validate genes involved in these conditions.

Contribution

The paper provides a focused review of model organisms used for functional validation in genetic renal disease research.

Findings

Model organisms are effective for validating disease genes and understanding kidney disease pathophysiology.

Mouse models are widely used due to genetic and physiological similarities with human kidneys.

Alternative models like zebrafish and frogs are being explored to complement mouse studies.

Abstract

Functional validation is key for establishing new disease genes in human genetics. Over the years, model organisms have been utilized in a very effective manner to prove causality of genes or genetic variants for a wide variety of diseases. Also in hereditary renal disease, model organisms are very helpful for functional validation of candidate genes and variants identified by next-generation sequencing strategies and for obtaining insights into the pathophysiology. Due to high genetic conservation as well as high anatomical and physiological similarities with the human kidney, almost all genetic kidney diseases can be studied in the mouse. However, mouse work is time consuming and expensive, so there is a need for alternative models. In this review, we will provide an overview of model organisms used in renal research, focusing on mouse, zebrafish, frog, and fruit flies.

Figures