ASN's Mission

ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005


The Latest on Twitter

Kidney Week

Basic/Clinical Science Session

From Variant to Function in Genomic Discovery

October 23, 2020 | 10:00 AM - 12:00 PM

Location: On-Demand

Session Description

To harness the power of human genomics to improve the health of our patients, we need to discover kidney disease genetic factors and then discern the mechanisms by which they cause or contribute to disease. In this session, we travel this path from variant to function, learning about the diverse analytic strategies available to discover novel genetic variants, computationally infer their potential biological role in disease using publicly available data, and experimentally evaluate their mechanistic impact in human-based model systems.

Learning Objective(s)

  • Define the genetic architecture of kidney diseases and identify strategies by which we can discover diverse genetic signals in families, cohorts, and single individuals
  • Specify the range of databases and analytic strategies available to begin to bioinformatically characterize newly discovered disease-associated variants
  • Identify the variety of newly developed experimental tools that can be used with human cells to elucidate the function of genetic variants

Learning Pathway(s)

  • Genetic Diseases of the Kidneys


  • Thomas A. Forbes, MBBS, PhD
  • Mathieu Lemaire, MD, MS, PhD, FASN