Online today on @jamanetworkopen.com our new paper on the role of #APOL1 M1 in increasing precision diagnosis for CKD in individuals from African ancestry. Collaboration with @kidneyomicsamps.bsky.social @gbadegesinlab.bsky.social @kirylukk.bsky.social et al jamanetwork.com/journals/jam...

Precision Diagnosis in APOL1 Kidney Disease With p.N264K M1 Protective Variant

This case-control study evaluates whether, in patients with APOL1 high-risk genotype kidney disease with at least 1 G2 allele, M1 can distinguish APOL1 chronic kidney disease from non-APOL1 chronic ki...

jamanetwork.com

🚀 Multiple open post-doc positions in our lab If you're a driven scientist with a strong interest in human genomics related to kidney disease & want to advance genetic discoveries, therapeutic hypotheses, & precision medicine for them, I hope you apply! tinyurl.com/kidneyomics-...

In 2020, we started to question whether #idiopathicnephroticsyndrome is strictly a 'pure' podocytopathy. Today, I am happy to share our new manuscript proposing a role of the glomerular endothelium in the disease pathogenesis. urldefense.com/v3/__https:/...

Endothelial cell–released CD93 contributes to podocyte injury in idiopathic nephrotic syndrome

Soluble CD93 contributes to podocyte injury, and CD93 blockade emerges as a candidate therapeutic target in INS.

urldefense.com

From a chance encounter years ago, far away, to this milestone today. Proud to have been involved in this research! Breakthroughs happen when we share ideas and challenge paradigms. Science moves forward when we work together—and this is just the beginning. #Nephrology #Research #TeamScience

Gabriel Cara Fuentes@carafuentes-neph.bsky.social · 7mo ago

In 2020, we started to question whether #idiopathicnephroticsyndrome is strictly a 'pure' podocytopathy. Today, I am happy to share our new manuscript proposing a role of the glomerular endothelium in the disease pathogenesis. urldefense.com/v3/__https:/...

Thanks for doing this, Matt! I am so excited to get this out finally!

Matt Sampson@kidneyomicsamps.bsky.social · 7mo ago

Supervised by @dongwon-lee.bsky.social we're excited to share our preprint on the landscape of allele-specific expression (ASE) in human kidneys. Using paired WGS and RNA-seq from kidney biopsies, we mapped ASE in proteinuric kidney disease in the #NEPTUNE study www.biorxiv.org/content/10.6...

Supervised by @dongwon-lee.bsky.social we're excited to share our preprint on the landscape of allele-specific expression (ASE) in human kidneys. Using paired WGS and RNA-seq from kidney biopsies, we mapped ASE in proteinuric kidney disease in the #NEPTUNE study www.biorxiv.org/content/10.6...

A long engaging and amazing journey for me in Kidney Genetics !!

Matt Sampson@kidneyomicsamps.bsky.social · 7mo ago

In 2021 @janewit-thekidgene.bsky.social joined our lab & decided to define the prevalence & clinical correlates of known genetic forms of nephrotic syndrome among an unselected group of adults. 5 yrs later, we're excited to share what he found; a 🧵 kidney-international.org/article/S008...

In 2021 @janewit-thekidgene.bsky.social joined our lab & decided to define the prevalence & clinical correlates of known genetic forms of nephrotic syndrome among an unselected group of adults. 5 yrs later, we're excited to share what he found; a 🧵 kidney-international.org/article/S008...

The 9th-11th annual “Conferences on The Nephrotic Syndrome” took place from 1957-1959 & I am privileged to have their Proceedings. From the library of Dr. David Cornfeld to Bernard Kaplan to now me. The topics still resonate, check out the ‘57 ToC. Looking forward to sharing excerpts from in ‘26

Dr. Nuno Loureiro, the MIT Physicist murdered this week, was a neighbor in Brookline whose daughters are in the same schools as my own kdis. We are all saddened by his loss. A GoFundMe has been established to support his children. Please consider donating if you can. gofund.me/f1657ba10

Donate to In Loving Memory of Nuno Loureiro, Supporting His Family, organized by Iva Konieczka

With heavy hearts, we share this page on behalf of the Loureiro… Iva Konieczka needs your support for In Loving Memory of Nuno Loureiro, Supporting His Family

gofund.me

Genes regulate kidney stones. In our recent editorial, Ken Saida and I review the evolving landscape of Mendelian genetics in KSD and discuss findings from a large cohort analysis in cJASN: doi.org/10.2215/CJN.... @harvardmed.bsky.social @bostonchildrens.bsky.social

Great collaboration with Florian Buerger, Friedhelm Hildebrandt, Jim Fawcett, @kidneyomicsamps.bsky.social, Markus Rinschen and many others. Huge thanks to all of our students who contributed so much to this work. #raredisease #nephrology #nephtwitter #medtwitter #kidney #fsgs

Excited to make a small contribution to this great work by my @bostonchildrens.bsky.social Peds Neph colleague @majmundarlab.bsky.social. He is doing amazing work to tease out the genetic drivers & molecular mechanisms of rare pediatric kidney dz while also directing our Kidney Genetics Clinic

Majmundar Laboratory@majmundarlab.bsky.social · 8mo ago

In our new @natcomms.nature.com study, we show that intergenic splicing of the NS disease gene/actin regulator NOS1AP is essential for kidney filter function via transcriptomic, proteomic, human genetic & mouse model studies. @harvardmed.bsky.social @bostonchildrens.bsky.social t.co/2xegr1OUlm

Sad that I can’t take my littlest podocyte to #KidneyWk with me. Can’t quite get the zipper to close @thesampsonlab.bsky.social

Ahead of #KidneyWk25, I’m recruiting 2-3 folks to help us map the genomics of pediatric kidney diseases toward treatments & cures. Please reach out if you’d like to connect in Houston @bostonchildrens.bsky.social @asnkidney.bsky.social @harvardmed.bsky.social @broadinstitute.org sampsonlab.org

Sampson Lab for Kidney Genomics

The Sampson Lab for Kidney Genomics, a research lab at Boston Children's Hospital's Division of Nephrology, seeks to discover causes, treatments, and cures of nephrotic syndrome through genomics. We b...

sampsonlab.org

Sampson Lab for Kidney Genomics@thesampsonlab.bsky.social · 9mo ago

We are excited to join the global nephrology community at #KidneyWeek2025 in Houston! From genetics to AI in research, this year’s sessions are all about collaboration and innovation in kidney health. Stay tuned as we share updates from the conference floor!

We’re excited to share that the Sampson Lab and Dongwon Lee Labs will be at ASHG 2025! 🎉 This year, our team is presenting 7 posters, and we can’t wait to connect, learn, and exchange ideas. If you’re attending, come check out our posters! #ASHG2025 @kidneyomicsamps.bsky.social

Our team is excited to meet folks at #ASHG25 #kidneyomics

Sampson Lab for Kidney Genomics@thesampsonlab.bsky.social · 10mo ago

We’re excited to share that the Sampson Lab and Dongwon Lee Labs will be at ASHG 2025! 🎉 This year, our team is presenting 7 posters, and we can’t wait to connect, learn, and exchange ideas. If you’re attending, come check out our posters! #ASHG2025 @kidneyomicsamps.bsky.social

Our #ASHG25 platform activities: Vrathasha Vrathasha: 3D genomics & glaucoma. 206AB, W 10.45-11 Winter Bruner: MPRA & childhood obesity. 205ABC, T 11-11.15 Matt Pahl: Ancillary Session, Predicted Effector Genes. 259A, F 1.45-1.15 Struan Grant chairs Metabolic Matrix session. 253ABC, S 10-11

Like many, I'm faced with having to resubmit a well scored RO1 (8th%ile to NIDDK on proteinuric kidney dz multiomics) My question: Can/should I share the A0 percentile in the 1 page intro to resubmission? Or is there some rule/convention against this? I can just share supportive quotes too

🧬Introducing our first-ever handbook of genetic nephrology, with free download until 8/2025 authors.elsevier.com/a/1lSgWzcYo6... @andrewmallett8.bsky.social and I saw a gap in foundational reading of genetic nephrology and decided to gather articles that clinician and learners can all enjoy

We have 14 chapters covering 1️⃣ Clinical approaches to genetic kidney diseases 2️⃣ Core and relevant concepts in genetics 3️⃣ Research, implementation & med-ed in this growing field Big thanks to Dr. Bonventre and my incredible mentor @kidneyomicsamps.bsky.social for the opportunity and support. 🙏

Why does your DNA matter?🧬 Because it holds clues that can unlock answers, not just for your child’s care, but for families everywhere facing nephrotic syndrome. 💙 Swipe to see how your sample can spark change. #thesampsonlab #nephroticsyndrome #DNA #raredisease

Yesterday, Matt Sampson and Kathy Madrazo represented our team at the Boston Children’s Hospital Pediatric Rare Disease Summit. Matt Sampson, Pediatric Nephrologist and Principal Investigator, spoke on a panel about the critical role of language accessibility in enhancing care and research.

Kathy Madrazo, Pediatrician and Clinical Research Specialist, presented on the power of biobanking and genomic research, highlighting insights from our BIGKiDs Study. @kidneyomicsamps.bsky.social

Principal Investigator. Pediatric Nephrologist. On a mission to find a cure for nephrotic syndrome. Now in action figure form. @kidneyomicsamps.bsky.social

Congrats to Elena Martinelli for being selected among @columbiamed.bsky.social top postdocs to present her research on #APOL1 and the value of the protective M1 variant at Medicine Grand Rounds. #FSGS #genetics @apollonetwork13.bsky.social @gbadegesinlab.bsky.social @kidneyomicsamps.bsky.social

Where to go for a nice post-NKF brunch with @ksusztak.bsky.social ? To a spot whose acronym they use for marketing represents what the two of us are trying to stamp out using #kidneyomics 🧬🫘

Happy National #ChildrensBookDay! 📚 @kidneyomicsamps.bsky.social

Someone get him a nephrologist @kidneyboy.bsky.social @kidneyomicsamps.bsky.social @caulimovirus.bsky.social @therealdoctort.bsky.social