Researcher | Research Overview
The goals of the Sampson lab are to map the genomic determinants of nephrotic syndrome through integrated system genomics and multiomic methods, and to discover the molecular, mechanistic, and clinical consequences of them when they are found. They are particularly interested in non-Mendelian strategies to map the genomic landscape of pediatric nephrotic syndrome. They use established methods from statistical genetics and population genetics to create high-quality variant call sets, perform genome-wide association and expression quantitative trait loci studies, and then contextualize disease-associated variants and transcripts with outcomes using genetic epidemiology approaches. In addition, when existing methods do not exist to answer important questions, they develop novel computational methods and bioinformatics tools. They are committed to creating user friendly, publicly available databases and web browsers of genomic information from kidney disease patients. To this end, they have publicly released patient genetic data at http://nephvs.org and eQTL and single-cell RNAseq data at http://nephqtl.org. Finally, they are committed to improving genomic literacy among Pediatric Nephrologists worldwide and maximizing the clinical utility of genomic testing in the clinic.
Researcher | Research Background
Matt knew that he wanted to be a pediatrician since high school, but never imagined that once he became one, he'd be spending the majority of his time as a researcher, deeply engaged in improving the health of children with kidney disease through genomic discovery. He received his BS in Cell & Molecular Biology at Duke University and his MD at the University of Virginia. He spent the next six years at Children's Hospital of Philadelphia/University of Pennsylvania, where he completed his residency in Pediatrics, fellowship in Pediatric Nephrology, and a Master's Degree in Epidemiology-Human Genetics. After 8 years on Faculty at the University of Michigan, where he established his "kidneyomics" lab, he moved to Boston Children's Hospital in 2019 where he holds the Warren E. Grupe Chair in Pediatric Nephrology. He is also an Associate Member of the Broad Institute, where he is a member of the Kidney Disease Initiative. He is the co-chairman of the Genetics and Genomics Working Group of the Nephrotic Syndrome Study Network (NEPTUNE) and the Kidney Disease Working Group of the ClinGen Consortium. More information about Dr. Sampson's research can be found at http://sampsonlab.org and on his Twitter feed @kidneyomicsamps.