The Exceptional Story of APOL1 Mediated Kidney Disease

Matt Sampson, MD, MSCE, ASCI is the Warren E. Grupe Chair of Pediatric Nephrology at Boston Children’s Hospital, Associate Professor of Pediatrics and Medicine at Harvard Medical School, Associate Member of the Broad Institute, and Research Nephrologist at Brigham & Women’s Hospital. He co-chairs the Genetics and Genomics Working Group of the Nephrotic Syndrome Study Network (NEPTUNE) and the Basic Science and Translational Research Committee of the International Society of Glomerular Disease. Between 2005-2011, Matt completed his residency and fellowship at CHOP while also obtaining an MSCE with a focus on Human Genetics at UPenn.

The goal of Matt’s “kidneyomics” research group is to improve the health of children with nephrotic syndrome through the paradigm of genomic discovery to genomically-informed clinical care. Using a patient-first approach, they generate and integrate genome-scale molecular data with phenotypic data to discover disease-associated genetic variants and contextualize their molecular, mechanistic, and clinical consequences. Matt has led the creation of EHR-linked biobanks for genomic discovery of kidney diseases at both the University of Michigan (“BIGBIRD”) and Boston Children’s Hospital (“BIGKIDS”). Finally, his lab is committed to connection and outreach with the wider community interested in improved health of children with NS.

Learning Objectives:

  1. Understand how genomic knowledge of pediatric kidney diseases and traits is helping better care for our patients
  2. Retain that the path from genomic discovery to genomically-informed medicine requires expertise far beyond genomics that we as pediatricians all have

Speaker:

  • Matt Sampson, MD, MSCE, ASCI

This seminar was delivered as a Pediatric Grand Rounds Lecture at Children’s Hospital of Philadelphia, on January 24, 2024.

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Course Includes

  • 1 Lesson
  • Course Certificate
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