ABOUT THE RESEARCHER

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.

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.

PUBLICATIONS

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  1. Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney. Nat Genet. 2021 05; 53(5):630-637. View abstract
  2. A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. J Am Soc Nephrol. 2021 Apr 16. View abstract
  3. APOL1 at 10 years: progress and next steps. Kidney Int. 2021 06; 99(6):1296-1302. View abstract
  4. APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis. Pediatr Nephrol. 2021 Sep; 36(9):2747-2757. View abstract
  5. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021 Feb 17. View abstract
  6. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol. 2020 11; 16(11):616-618. View abstract
  7. Quantify and control reproducibility in high-throughput experiments. Nat Methods. 2020 12; 17(12):1207-1213. View abstract
  8. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney Int. 2020 11; 98(5):1308-1322. View abstract
  9. Introduction to Genomics of Kidney Disease: Implications, Discovery, and Translation. Clin J Am Soc Nephrol. 2020 02 07; 15(2):267. View abstract
  10. Urinary Epidermal Growth Factor as a Marker of Disease Progression in Children With Nephrotic Syndrome. Kidney Int Rep. 2020 Apr; 5(4):414-425. View abstract
  11. Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 Sep; 15(9):590. View abstract
  12. Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 09; 15(9):523-524. View abstract
  13. Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation. BMJ Case Rep. 2019 Aug 30; 12(8). View abstract
  14. Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses. Data Brief. 2019 Aug; 25:104311. View abstract
  15. Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects. J Pediatr. 2019 10; 213:103-109. View abstract
  16. The human nephrin Y1139RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development. J Biol Chem. 2019 07 12; 294(28):10773-10788. View abstract
  17. Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection. N Engl J Med. 2019 05 16; 380(20):1918-1928. View abstract
  18. Disruption of the exocyst induces podocyte loss and dysfunction. J Biol Chem. 2019 06 28; 294(26):10104-10119. View abstract
  19. Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. Nat Commun. 2019 04 23; 10(1):1847. View abstract
  20. Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019. Am J Kidney Dis. 2019 10; 74(4):549-557. View abstract
  21. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 04; 51(4):764. View abstract
  22. Glomerular and tubulointerstitial eQTLs for genomic discovery. Nat Rev Nephrol. 2019 01; 15(1):3-4. View abstract
  23. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 01; 51(1):117-127. View abstract
  24. An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome. Am J Hum Genet. 2018 08 02; 103(2):232-244. View abstract
  25. Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2018 07; 29(7):2000-2013. View abstract
  26. UBD modifies APOL1-induced kidney disease risk. Proc Natl Acad Sci U S A. 2018 03 27; 115(13):3446-3451. View abstract
  27. A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. Nephrol Dial Transplant. 2018 02 01; 33(2):323-330. View abstract
  28. The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome. Transplantation. 2017 12; 101(12):2814-2815. View abstract
  29. An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts. Nephrol Dial Transplant. 2017 Dec 01; 32(12):2051-2058. View abstract
  30. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 02; 101(5):789-802. View abstract
  31. Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. Pediatr Nephrol. 2017 07; 32(7):1285. View abstract
  32. APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts. Nephrol Dial Transplant. 2017 Jun 01; 32(6):983-990. View abstract
  33. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase e. J Am Soc Nephrol. 2017 10; 28(10):3066-3075. View abstract
  34. A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway. Kidney Int Rep. 2017 Nov; 2(6):1238-1242. View abstract
  35. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754. View abstract
  36. Renal and Cardiovascular Morbidities Associated with APOL1 Status among African-American and Non-African-American Children with Focal Segmental Glomerulosclerosis. Front Pediatr. 2016; 4:122. View abstract
  37. Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. Pediatr Nephrol. 2017 03; 32(3):467-476. View abstract
  38. A Familial Infantile Renal Failure. Kidney Int Rep. 2017 Mar; 2(2):130-133. View abstract
  39. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016 10; 48(10):1279-83. View abstract
  40. tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine. BMC Bioinformatics. 2016 Jun 10; 17(1):233. View abstract
  41. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. J Clin Invest. 2016 Mar 01; 126(3):1067-78. View abstract
  42. Complete Remission in the Nephrotic Syndrome Study Network. Clin J Am Soc Nephrol. 2016 Jan 07; 11(1):81-9. View abstract
  43. Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarker. Sci Transl Med. 2015 Dec 02; 7(316):316ra193. View abstract
  44. Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort. J Am Soc Nephrol. 2016 07; 27(7):1970-83. View abstract
  45. Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology. J Pediatr Genet. 2016 Mar; 5(1):69-75. View abstract
  46. GeneVetter: a web tool for quantitative monogenic assessment of rare diseases. Bioinformatics. 2015 Nov 15; 31(22):3682-4. View abstract
  47. Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects. J Am Soc Nephrol. 2016 Mar; 27(3):814-23. View abstract
  48. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. PLoS One. 2015; 10(6):e0130729. View abstract
  49. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin Nephrol. 2015 May; 35(3):212-21. View abstract
  50. Defining nephrotic syndrome from an integrative genomics perspective. Pediatr Nephrol. 2015 Jan; 30(1):51-63; quiz 59. View abstract
  51. Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome. PLoS One. 2013; 8(11):e81062. View abstract
  52. Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int. 2013 Apr; 83(4):749-56. View abstract
  53. Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease. Curr Pediatr Rep. 2013 Mar; 1(1):52-59. View abstract
  54. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97. View abstract
  55. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. . 2010 Oct; 152A(10):2618-22. View abstract