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...

🚀 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:/...

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

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

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 !!

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

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

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

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

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

sjobs.brassring.com/TGnewUI/Sear... Come be @thesampsonlab.bsky.social Social Media & Community Outreach Coordinator. I am VERY interested in applicants bilingual in Spanish. We're growing by leaps and bounds & there are lots of opportunities to bring your own ideas. Please repost

Lily McCloskey, a student research assistant from last summer, reflects on her time working with our lab. Our team, made up of individuals from diverse backgrounds, fosters an inclusive environment where everyone can thrive. Watch the full video here: buff.ly/2vkENNY @kidneyomicsamps.bsky.social

www.wpbf.com/article/sat-... Also was an issue here in Brookline, MA

(1/2)😡My daughter sat for SATs today & the @collegeboard SAT software froze halfway through a Reading module. By the time an AV expert arrived and got it to work on another computer, she had 16 seconds remain. After, she had to do a Math module in this state, which worked for some reason

A second measles death has now occurred (in New Mexico) in the ongoing outbreak. Weak and confusing messaging about the role of vaccination will only lead to more deaths. Vitamin A is not a substitute for vaccination - the MMR vaccine is the only reliable way to prevent measles. #IDSky #PedsIDSky

Two weeks ago, Matt touched down in Cape Town, South Africa, to attend the IPNA Congress. Thanks to everyone who presented and made it a great trip! #IPNA2025 @kidneyomicsamps.bsky.social

QOTD: Who on the team would be your emergency contact? @kidneyomicsamps.bsky.social

It’s #KidneyMonth! Here are some memes to kick it off. @kidneyomicsamps.bsky.social

With over 6,000 identified rare diseases, we are fortunate to have doctors and researchers around the globe working to learn more about nephrotic syndrome. #RareDiseaseDay #nephrology #computationalbiology #kidneyomics @kidneyomicsamps.bsky.social

Wondering if your study section cancelled? I update this sheet daily. As of today, 56/124 study sections that should have met since Jan 2, 2025 have "not met as scheduled." docs.google.com/spreadsheets...

“Dear Applicant,  The GHD study section meeting scheduled for today and tomorrow, is not occurring on these dates.  It is being postponed to later dates, to be determined.  This is because the meeting has not yet posted in the Federal Register.  I do not know when the meeting will be rescheduled..."

#EmailsToDOGE 1. Spoke about Alport syndrome to international audience at #IPNA2025 2. Peer reviewed manuscripts x2 3. Cared for children with kidney disease 4. Review clinical trial enrollment and lab results 5. Brought my daughter to South Africa to learn about effects of apartheid first hand 🇿🇦

This is the best article I’ve read so far in terms of describing the challenges impacting research in the US. I am being directly affected already. My RO1 is due to be reviewed on Monday but the study section is likely to be canceled. This will have a profound impact on our lab’s work #kidneyomics

Ok scientists & those who love science 🧪: here is another exhortation. Call Congress TODAY about the freeze on NIH Council Meetings and Study Sections. Emphasize that this means NO new grants are being funded & labs will soon start to shut down and fire employees. Phone numbers are at: 5calls.org

A great evening meeting the phenomenal @kidneyomicsamps.bsky.social & our great Oz colleagues including @cathyquinlan.bsky.social #IPNA2025

Incredible to meet & I look forward to collaborating to bring benefit to children globally

📍Cape Town, South Africa 🇿🇦 Matt is at the 2025 International Pediatric Nephrology Association (IPNA) Congress in Cape Town, South Africa, where experts are coming together to learn, connect, and push the boundaries of pediatric nephrology. #IPNA2025 @kidneyomicsamps.bsky.social

So great to spend some time chatting about pediatric nephrology and life with @louiseoni.bsky.social Great to meet folks who I admire at @ped-neph.bsky.social

With 3 former division heads, no less! Note the huge smiles! #nephsky #medsky