Updates: Two new publications and new members!

posted Jul 27, 2018, 1:46 PM by Michelle McNulty

We are very excited about our new publications and some new Lab members!

We are having a fun summer incorporating new members and new ideas in our ongoing goals of understanding the etiology of nephrotic syndrome. 

ASN Kidney Week 2017

posted Nov 9, 2017, 8:52 AM by Kalyn Yasutake   [ updated Nov 9, 2017, 8:54 AM ]

Five days, two presentations, and two poster sessions later, Sampson Lab has returned from the beautiful city of New Orleans. Thank you for all who came to hear our work on the glomerular and tubulointerstitial eQTLs of patients with nephrotic syndrome, defining nephrotic syndrome severity in the NEPTUNE cohort and creation of the NS2 score, tissue-specific and circulating APOL1 in nephrotic syndrome patients, and APOL1 glomerular transcriptional networks in non-black FSGS patients. We greatly enjoyed getting to share our research and seeing all the amazing work being done by fellow researchers. If you wish to know more about this work please feel free to contact us.

Sampson Lab Hits ASN Kidney Week 2017 in NOLA

posted Aug 14, 2017, 10:51 AM by Kalyn Yasutake   [ updated Aug 14, 2017, 10:56 AM ]

The American Society of Nephrology (ASN) Kidney Week 2017 Annual Meeting has accepted 4 abstracts from Sampson Lab projects! Taking place in New Orleans from October 31 to November 5, we will be presenting both oral presentations and abstracts of the different projects we have been working on this year. Dates, primary authors, and topics are:

Friday, November 3
Session Title: Genetically-Defined Kidney Diseases: From Variant Calling to Treatment
Time: 4:30 PM to 6:30 PM
  • Dr. Chris Gillies, PhD: Oral presentation of  "The multi-phenotype derived Nephrotic Syndrome Severity (NS2) score empowers genomic discovery" 
  • Rose Putler, MS: Oral presentation of  "Glomerular & tubulointerstitial eQTLs of patients with nephrotic syndrome" 
Saturday, November 4
Session Title: Noncystic Mendelian Diseases
Time: 10:00 AM to 12:00 PM
  • Dr. Damian Fermin PhD: Poster Session of  "APOL1 glomerular transcriptional networks in non-black FSGS patients" 
Saturday, November 4
Session Title: CKD: Risk Factors for Incidence and Progression - III 
Time: 10:00 AM to 12:00 PM
  • Kalyn Yasutake, MPH: Poster Session of  "Impact of intrarenal and circulating APOL1 expression levels on phenotypes in nephrotic syndrome" 

Stay tuned for updates and come see our work and beautiful city of New Orleans!

"Nephrotic syndrome genomic discovery in era of Big Data" presentation posted

posted Nov 17, 2016, 2:47 PM by Matt Sampson   [ updated Aug 14, 2017, 10:55 AM by Kalyn Yasutake ]

Check our "Selected Publications" page for a modified version of our talk from the 2016 ASN Annual Meeting.

Nephrotic Variant Server (NephVS) Beta 0.01 released

posted Nov 14, 2016, 12:31 PM by Matt Sampson   [ updated Aug 14, 2017, 10:55 AM by Kalyn Yasutake ]

We are excited to announce the release of NephVS, the Nephrotic Variant Server. The goal NephVS is to create a database composed of aggregated short-read sequencing and array-based genotype data from research participants with nephrotic syndrome and other glomerular disease. By sharing summary genetic data from these patients, we aim to aid the broader scientific community in their efforts to discover the genetic underpinnings of these conditions. We believe that the power of NephVS for discovery and characterization will be greatly strengthened as additional variant summary data are added from independent patients with nephrotic syndrome and other glomerular diseases. Investigators wishing to discuss collaborating with us on this server should email us

The initial genetic datasets in NephVS were generated from 322 participants in the Nephrotic Syndrome Study Network (NEPTUNE).

tarSVM paper published

posted Jul 19, 2016, 5:26 AM by Matt Sampson   [ updated Aug 14, 2017, 10:54 AM by Kalyn Yasutake ]

Congrats to Chris Gillies for leading this study, in which we designed a novel method, tarSVM, to more accurately identify variants emerging from amplicon sequencing pipelines. Had a great time collaborating with investigators at Columbia, NCI, and University of KwaZulu Natal in South Africa on this project. As Chris noted in the conclusion, "tarSVM increases the accuracy of variant calling when using microfluidic PCR based targeted sequencing approaches. This results in higher confidence downstream analyses, and ultimately reduces the costs Sanger validation. Our approach is less labor intensive than existing approaches, and is available as an open source pipeline for read trimming, aligning, variant calling, and variant quality filtering on GitHub at https://github.com/christopher-gillies/TargetSpecificGATKSequencingPipeline."

Pediatric APOL paper published

posted Apr 27, 2016, 7:23 AM by Matt Sampson   [ updated Apr 27, 2016, 7:25 AM ]

Our paper describing the prevalence and clinical correlates of APOL1-related glomerular disease in 104 black children was published online today at "Nephrology Dialysis Transplantation". This was a wonderful collaboration between the Nephrotic Syndrome Study Network (NEPTUNE) and the Chronic Kidney Disease in Children (CKiD) cohorts.  Here is the link to the paper

Congrats to Cassie!

posted Feb 25, 2016, 6:16 AM by Matt Sampson

Cassie just finished her whirlwind tour across the Southeast for PhD interviews. Happily, she was quickly accepted at all 4 programs to which she applied :) Congrats to her. We look forward to seeing where she ends up...

RO1 funded!

posted Feb 7, 2016, 2:30 PM by Matt Sampson   [ updated Aug 14, 2017, 10:54 AM by Kalyn Yasutake ]

In late January, we found out that our RO1 proposal, "APOL1-associated nephropathy from a human-derived, intrarenal perspective", has been funded by NIDDK.  We look forward to spending at least the next five years accomplishing the aims that we set out, in close collaboration with many colleagues in Ann Arbor and across the country. A real testament to the hard work by all members of the lab, particularly Cassie and Chris :)

Novel biomarker for CKD paper published

posted Dec 2, 2015, 8:43 PM by Matt Sampson

Happy to have been part of this from Matthias Kretzlers' lab published today in Science Translational Medicine. More support for the utility of integrative genomics in kidney disease..


Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarker

  1. Wenjun Ju1,2,*,
  2. Viji Nair1,
  3. Shahaan Smith1,
  4. Li Zhu3
  5. Kerby Shedden2,4
  6. Peter X. K. Song5
  7. Laura H. Mariani1,6
  8. Felix H. Eichinger1
  9. Celine C. Berthier1
  10. Ann Randolph1
  11. Jennifer Yi-Chun Lai1
  12. Yan Zhou5,§,
  13. Jennifer J. Hawkins1
  14. Markus Bitzer1
  15. Matthew G. Sampson7
  16. Martina Thier8
  17. Corinne Solier8
  18. Gonzalo C. Duran-Pacheco8
  19. Guillemette Duchateau-Nguyen8
  20. Laurent Essioux8
  21. Brigitte Schott8
  22. Ivan Formentini8,
  23. Maria C. Magnone8,
  24. Maria Bobadilla8
  25. Clemens D. Cohen9,
  26. Serena M. Bagnasco10
  27. Laura Barisoni11,
  28. Jicheng Lv3
  29. Hong Zhang3
  30. Hai-Yan Wang3,**
  31. Frank C. Brosius1,12
  32. Crystal A. Gadegbeku13
  33. Matthias Kretzler1,2,*
  34. for the ERCB, C-PROBE, NEPTUNE, and PKU-IgAN Consortium

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