On Monday, April 22nd at 3pm ET, we hosted a special webinar with NephCure highlighting the latest in nephrotic syndrome research and kidney genomics!

Join Dr. Matthew Sampson, a Pediatric Nephrologist at Boston Children's Hospital and Harvard Medical School, as he shares insights from his work in the field, discoveries, and collaborative efforts aimed at improving care for patients and families affected by rare kidney disease.

Don’t miss this opportunity to delve into the world of kidney genomics and nephrotic syndrome research.

On Thursday, October 19th, we hosted a special live Q&A with NephCure to showcase Dongwon Lee PhD, Assistant Professor of Pediatrics at Harvard Medical School and Principal Investigator of the Dongwon Lee Lab at Boston Children's Hospital and his work with the Sampson Lab for Kidney Genomics.

Dongwon is a computational biologist and human geneticist with expertise in machine learning. The Lee and Sampson Lab’s research uses genomics to better understand, treat, and ultimately cure nephrotic syndrome. Through genomics, researchers can decode the genetic instructions within our cells, pinpointing the specific changes that lead to disease. Eventually, it may allow us to develop targeted treatments tailored to the genetic causes of each patient’s condition.

In partnership between NephCure and Sampson Lab for Kidney Genomics, we are building a collaborative effort to highlight important research and resources to assist rare kidney disease patients on their journey.

We excited to share our work "Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome" has been published in Nature Communications. The study aimed to learn more about the genetic causes of pediatric steroid-sensitive nephrotic syndrome (pSSNS). Researchers analyzed the genes of over 38,000 people, including 2,440 with the disease, and identified 12 genetic factors that contribute to the disease. These discoveries help expand our knowledge of the disease and contribute to understanding the underlying mechanisms of pSSNS.

We're thrilled to announce our newest publication on "Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs" has been released in Nature Communications. Our study aimed to uncover how specific genes are regulated in the kidney by identifying genomic variants that influence their expression, referred to as expression quantitative trait loci (eQTLs). Using samples from human kidney biopsies, we discovered 5371 GLOM and 9787 TUBE genes with at least one variant significantly associated with expression.

Overall, this study highlights the value of tissue-specific eQTL maps and open chromatin data for analyses, which enhances our understanding of kidney function.

We're headed to the National Kidney Foundation Clinicals in Austin, Texas where Michelle McNulty, MS will be speaking alongside Drs. Rasheed Gbadegesin and Jeffrey Kopp about "APOL1 Mediated Kidney Disease: What Does the Future Hold"? The session is happening over lunch on April 13 at 12 pm in Ballroom A, Austin Convention Center.

Can't make it in person? Tune into the #NKFClinicals livestream.

About the session:

APOL1-mediated kidney disease (AMKD) is a kidney disorder caused by certain apolipoprotein L1 (APOL1) genetic mutations. This genetic disease can lead to renal cell injury and damage to the glomeruli, resulting in proteinuria and progression to end stage kidney disease. This program will address APOL1 epidemiology and potential mechanisms of AMKD, as well as implications of genetic ancestry and approaches to testing, followed by a discussion of current and emerging therapies for AMKD.

This November our team went to the American Society of Nephrology’s (ASN) Annual Kidney Week! We had a great time connecting with kidney professionals from all over the world. Our lab values data sharing and exchanging knowledge that drives forward discoveries in research. Therefore, we want to continue the momentum by sharing our ASN abstracts and posters on our website.

Last week at American Society of Nephrology (ASN) Kidney Week, China Nagano MD, PhD presented our findings on A Multi-Population Polygenic Risk Score for Pediatric Steroid Sensitive Nephrotic Syndrome Is Correlated With Disease Age at Onset. “We are excited to have been part of a global collaboration that both discovered new GWAS loci for pSSNS and created a PRS. We look forward to following up on our discovery in multiple ways,” said China in the ASN Press Release. We couldn’t be prouder - way to go China!

Today is the launch of American Society of Nephrology’s (ASN) annual kidney week. Our team will be joining over 10,000 kidney professional from all over the world to engage in discussions, exchange knowledge, and learn about the latest advances in science and medicine. We also have the opportunity to share our work alongside these outstanding professionals. Here’s where you can find us at #kidneywk.

Michelle McNulty and Matt Sampson were psyched to contribute to this paper on APOL1 regulation via RNA-editing led by Cristian Riella, David Friedman, and Martin Pollak. We analyzed APOL1 RNA-editing in the glomeruli of NEPTUNE patients to support their meticulous, in vitro insights.

Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional signals. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. We conducted a multi-population GWAS meta-analysis in 38,463 participants (2,440 cases) and population specific GWAS, discovering twelve significant associations (eight novel).

A special thank you to our collaborators at Boston Children’s Hospital, Harvard Medical School, Broad Institute, and Brigham and Women’s Hospital for helping make our research and presentation possible.

Thank you to the International Pediatric Nephrology Association (IPNA) for having us present at the 2022 IPNA Congress, which seeks to better equip participants, “to recognize, assess, investigate, and diagnose children presenting with kidney disease and then be better able to plan and manage their treatment.”

Apolipoprotein L1 (APOL1)-associated focal segmental glomerulosclerosis (FSGS) is the dominant form of FSGS in Black individuals. There are no targeted therapies for this condition, in part because the molecular mechanisms underlying APOL1's pathogenic contribution to FSGS are incompletely understood. Studying the transcriptomic landscape of APOL1 FSGS in patient kidneys is an important way to discover genes and molecular behaviors that are unique or most relevant to the human disease.

Expression quantitative trait locus (eQTL) studies illuminate genomic variants that regulate specific genes and contribute to fine-mapped loci discovered via genome-wide association studies (GWAS). Efforts to maximize their accuracy are ongoing. Using 240 glomerular (GLOM) and 311 tubulointerstitial (TUBE) micro-dissected samples from human kidney biopsies, we discovered 5,371 GLOM and 9,787 TUBE eQTLs by incorporating kidney single-nucleus open chromatin data and transcription start site distance as an “integrative prior” for Bayesian statistical fine mapping.

Chromatin accessibility assays are central to the genome-wide identification of gene regulatory elements associated with transcriptional regulation. However, the data have highly variable quality arising from several biological and technical factors. To surmount this problem, we use the predictability of open-chromatin peaks from DNA sequence-based machine-learning models to evaluate and refine chromatin accessibility data. Our framework, gapped k-mer SVM quality check (gkmQC), provides the quality metrics for a sample based on the prediction accuracy of the trained models.