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

Moderators

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

Presentations

• Discovering All Forms of Kidney Disease-Associated Genetic Variation
  10:00 AM - 10:30 AM
  
  • Simone Sanna-Cherchi, MD
  Simone Sanna-Cherchi, MD

Discovering All Forms of Kidney Disease-Associated Genetic Variation

October 23, 2020 | 10:00 AM - 10:30 AM

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• Expanding Our Understanding of Disease Genes and Variants Using Available Datasets and Databases
  10:30 AM - 11:00 AM
  
  • Anna Kottgen, MD, MPH
  Anna Kottgen, MD, MPH

Expanding Our Understanding of Disease Genes and Variants Using Available Datasets and Databases

October 23, 2020 | 10:30 AM - 11:00 AM

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• Single-Cell Transcriptomics in Lupus Nephritis and Other Glomerular Diseases
  11:00 AM - 11:30 AM
  
  • Matthias Kretzler, MD 
  

  Matthias Kretzler, MD

Single-Cell Transcriptomics in Lupus Nephritis and Other Glomerular Diseases

October 23, 2020 | 11:00 AM - 11:30 AM

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• The Immune System in the Kidney at Single-Cell Resolution
  11:30 AM - 12:00 PM
  
  • Menna R. Clatworthy, MD, PhD
  Menna R. Clatworthy, MD, PhD

The Immune System in the Kidney at Single-Cell Resolution

October 23, 2020 | 11:30 AM - 12:00 PM

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