Honoring the Life of William Couser, Pioneer in Glomerular Disease Research

We mapped the entire genome-6 million nucleotides associated with kidney function-of each individual systematically," Susztak said."Most of the variations that explain kidney function heritability are identified by our study."The massive effort paid off by allowing the study to reach the so-called saturation point, of which Susztak and colleagues believe they have identified nearly all genetic variations contributing to kidney diseases.The team identified 1026 genetic variations linked to kidney function, including 97 new ones.Then, through a series of additional experiments in smaller cohorts, they explored how these mutations contribute to gene regulation, such as open chromatin, and their patterns of expression in individual cell types.Thereafter, they assembled these data into a kidney scorecard tool that other scientists can use."The magnitude of what [the team] accomplished was impressive," said