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Simone Sanna-Cherchi 🧬

@genetickidneydoc.bsky.social
706 followers 282 following 257 posts

Professor of Medicine, Pediatrics and Genetics at UPenn and CHOP Leveraging genetic diversity to mitigate kidney disease and inequality #genetics #pediatrics #nephrology #FSGS #rFSGS #CAKUT #humangenetics Views are my own

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Reposted by Simone Sanna-Cherchi 🧬
JCI insight @insight.jci.org · 18/09/2026
A new urine test may help doctors diagnose cystinosis earlier, potentially improving care for children with this rare kidney disease. doi.org/10.1172/jci..... Greenberg et al .provide a proof-of-concept study on the use of urine YKL-40 as a biomarker.
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Reposted by Simone Sanna-Cherchi 🧬
Nature @nature.com · 13/08/2026
The world’s oceans are reaching temperatures that could roil marine ecosystems and sap the ocean’s ability to take up carbon dioxide from the air go.nature.com/4wB283K
go.nature.com
Ocean temperatures set to break all-time record: what’s next?
High sea surface temperatures are expected to weaken ocean carbon sinks and damage coral reefs.
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Reposted by Simone Sanna-Cherchi 🧬
Hillary Rodham Clinton @hillaryclinton.bsky.social · 11/08/2026
When it comes to your children’s health, listen to doctors. Not a president who once told Americans to inject bleach. The American Academy of Pediatrics’ immunization recommendations have not changed.
Children’s immunization schedule
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Reposted by Simone Sanna-Cherchi 🧬
ASN Publications @asnpublications.bsky.social · 10/08/2026
Could APOL1 risk variants affect kidney health before birth? In a HIVAN mouse model, APOL1-G1 was linked to a preeclampsia-like phenotype and reduced podocyte and glomerular densities in offspring, suggesting a developmental “second hit.” #ASNKidney360 #BasicResearch kidney.pub/KID1253?u...
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 01/08/2026
After ~23 years at Columbia University, today I start a new adventure at the University of Pennsylvania and Children's Hospital of Philadelphia (CHOP) as Professor of Medicine, Pediatrics & Genetics and Director of the Penn–CHOP Rare and Inherited Kidney Disease Program. @childrensphila.bsky.social
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Reposted by Simone Sanna-Cherchi 🧬
Nature @nature.com · 04/07/2026
Most epigenetic-editing platforms, rather than making changes to the DNA itself, modify the markers attached to DNA go.nature.com/4vEIxQg
go.nature.com
CRISPR’s next act: the companies editing the epigenome to treat disease
Nature - A handful of start-up firms are testing therapies that target specific epigenetic markers to treat everything from high cholesterol to a rare muscular disorder.
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Reposted by Simone Sanna-Cherchi 🧬
Genes & Diseases Journal @genesndiseases.bsky.social · 04/07/2026
#Organoids are transforming #ESCC research by enabling realistic disease modelling, drug screening, personalized therapy, and, when combined with #GeneEditing, uncovering new #biomarkers and therapeutic targets to improve patient outcomes. #OpenAccess: doi.org/10.1016/j.ge...
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 01/07/2026
We have read opinions saying that paying reviewers would not work… here there is data showing it can work
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 01/07/2026
Great initiative!
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 19/06/2026
Very nicely written and timely
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Reposted by Simone Sanna-Cherchi 🧬
Eric Topol @erictopol.bsky.social · 15/06/2026
A @nejm.org editorial today on the Office of White House Management and Budget (OMB) regarding their new funding proposal and politicization of science www.nejm.org/doi/full/10....
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Reposted by Simone Sanna-Cherchi 🧬
GreyBruceInfo- Part Owner of Canada 🇨🇦 @brucegreyinfo.bsky.social · 14/06/2026
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Reposted by Simone Sanna-Cherchi 🧬
International Society of Glomerular Disease @isgd.bsky.social · 14/04/2026
More than 100 years after #FSGS was first described, we have the first FDA-approved treatment. A proud day for the collaborative #ParasolProject! With the global community uniting to transform glomerular health, this is only the beginning. ⛱️
is-gd.org
A Milestone for FSGS — And a Proud Moment for PARASOL
A historic milestone for FSGS patients as the FDA approves the first drug for the condition, highlighting the collaborative efforts behind the PARASOL project's success.
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Reposted by Simone Sanna-Cherchi 🧬
Swapnil Hiremath 🍁🇨🇦 @hswapnil.medsky.social · 16/03/2026
Make HUS Great Again! #NephSky
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 13/03/2026
The cause of CKD in patients with APOL1-HR genotypes is not always APOL1: M1 can help avoiding label diagnosis, identifying individuals in which a full diagnostic workup is indicated. In APOL1 low risk, M1 doesn't confer additional independent protection->no need to treat the entire world population
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 11/03/2026
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...
jamanetwork.com
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...
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Reposted by Simone Sanna-Cherchi 🧬
ASN Publications @asnpublications.bsky.social · 10/03/2026
New in #ASNJASN: Community engagement achieved high APOL1-mediated kidney disease (AMKD) screening rates but low yield of trial-eligible participants. Read more: kidney.pub/JASN1062
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 07/03/2026
Great paper from @carafuentes-neph.bsky.social !! Tackling #nephroticsyndrome from many angles, better treatments are on the horizon! Congrats Gabriel & team!!!! #FSGS #pediatricnephrology #NephSky #SkyNeph #humangenetics @science.org www.science.org/doi/10.1126/...
science.org
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.
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 04/03/2026
Great paper !!! #APOL1 #FSGS
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Reposted by Simone Sanna-Cherchi 🧬
American Journal of Kidney Diseases @ajkd.bsky.social · 27/02/2026
EDITORIAL: Family Matters: Dissecting the Impact of Family Medical History, APOL1 Genotype, and Sociodemographic Factors on CKD Progression in the Chronic Renal Insufficiency Cohort (CRIC) Study bit.ly/3N7Dsim @ClaraFischman @kirkcampbell
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Eric Topol @erictopol.bsky.social · 26/02/2026
This week's cover @thelancet.com
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Luca Rampoldi @lrampoldi.bsky.social · 05/02/2026
🔬 Just published in @asnpublications.bsky.social In a mouse model of #ADTKD-UMOD, moderate calorie restriction restores autophagy, reduces ER retention of mutant #uromodulin, and significantly delays kidney disease. journals.lww.com/jasn/abstrac...
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 29/12/2025
Great collaboration with the @kidneyomicsamps.bsky.social lab! Thank you Matt for bringing back #MEFV for me, the disease that ignited my interest for #humangenetics when I was still a student! And now a risk factor for #FSGS! When things come together.. www.kidney-international.org/article/S008...
kidney-international.org
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis
Health system-based biobanks with genetic data provide a unique opportunity for nephrotic syndrome (NS) genomic discovery. This is predicated on finding cases in the electronic-health-record.
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Reposted by Simone Sanna-Cherchi 🧬
haysamrady @sodatroubles.bsky.social · 24/12/2025
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis #nephsky #nephrology www.kidney-international.org/article/S008...
kidney-international.org
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis
Health system-based biobanks with genetic data provide a unique opportunity for nephrotic syndrome (NS) genomic discovery. This is predicated on finding cases in the electronic-health-record.
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Reposted by Simone Sanna-Cherchi 🧬
Alan Yu @alanyuneph.bsky.social · 24/12/2025
🔥Proud to share our latest #PKD prognostic model from CRISP IV In ADPKD pts with normal eGFR we can predict probability of kidney failure 15 years later with C-index >0.8 Uses only TKV + data obtained in usual clinical care
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Reposted by Simone Sanna-Cherchi 🧬
ASN Publications @asnpublications.bsky.social · 04/12/2025
This #ASNJASN research explored how two transcription factors, Dmrt2 and Hmx2, influence the differentiation of intercalated cells in the kidney, which are crucial for acid-base balance. Read more: kidney.pub/JASN0885 #BasicScience
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Reposted by Simone Sanna-Cherchi 🧬
Eric Topol @erictopol.bsky.social · 04/12/2025
Thanks @robcaliff.bsky.social and 11 other prior FDA Commissioners for weighing in on vaccines, evidence, appropriate policy in today's @nejm.org www.nejm.org/doi/full/10.... www.statnews.com/2025/12/03/f...
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 02/12/2025
Well said! If you want to show something scary, show the disease not the cure
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Reposted by Simone Sanna-Cherchi 🧬
Michelle Rheault, MD @rheaultm.bsky.social · 02/12/2025
Looking forward to the ASSENT ( #Alport syndrome surrogate endpoints network) meeting today with the FDA. We need new effective therapies and paving a regulatory path is the first step.
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 02/12/2025
Nice! One of the many ways we can envision gene / genetic driven therapies! #treatingtheuntreatable #genetics #Alport #raredisease
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Reposted by Simone Sanna-Cherchi 🧬
David Koch Jr. Glomerular Kidney Center @cuimcglomcenter.bsky.social · 01/12/2025
Registration remains open for the 15th Annual Glomerular Disease 2026 Conference on Friday, February 6th, 2026. Feel free to register for our virtual conference using the following link: www.eventleaf.com/At...
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Reposted by Simone Sanna-Cherchi 🧬
ASN Publications @asnpublications.bsky.social · 01/12/2025
The December issue of JASN is now available online! Topics covered this month include: - The HiLo RCT of Phosphate Targets during In-Center Hemodialysis - Kidney Transcriptomic Profiles in IgA Nephropathy - and more Check out the issue here: kidney.pub/JASN-1225 #ASNJASN Cover by Wu et al.
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American Journal of Kidney Diseases @ajkd.bsky.social · 30/11/2025
EDITORIAL: Gaining a Genomic Foothold on Unexplained Kidney Failure bit.ly/4onuhqE (FREE)
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 30/11/2025
Perfect indeed to spot DBs at distance :)
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Reposted by Simone Sanna-Cherchi 🧬
Nature @nature.com · 30/11/2025
Five years ago, researchers at Google DeepMind unveiled AlphaFold2 go.nature.com/44rM1di
go.nature.com
AlphaFold is five years old — these charts show how it revolutionized science
Nature - Since it was unveiled in 2020, Google DeepMind's game-changing AI tool has helped researchers all over the world to predict the 3D structures of hundreds of millions of proteins.
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Reposted by Simone Sanna-Cherchi 🧬
ASN Publications @asnpublications.bsky.social · 27/11/2025
This #ASNCJASN study analyzed the effects of empagliflozin, a diabetes medication, on kidney function in young people with type 2 diabetes (T2D), suggesting that empagliflozin may help prevent early diabetic kidney disease in youth with T2D. Read more: kidney.pub/CJASN0889
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Reposted by Simone Sanna-Cherchi 🧬
ASN Publications @asnpublications.bsky.social · 25/11/2025
In this new perspective article in #ASNJASN, authors detail a national system of iteration enabling bidirectional flow between clinical care and whole genome sequencing. Read more: kidney.pub/JASN0922 @dannygale.bsky.social
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 25/11/2025
Interesting read on the protective p.N264k (M1) #APOL1 variant and #kidneydisease and #FSGS. More to come soon on M1…. Stay tuned :) @bhallaresearch.bsky.social @gbadegesinlab.bsky.social @kidneyomicsamps.bsky.social
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ASNKidney @asnkidney.bsky.social · 24/11/2025
🎉 Congratulations to the 2025 ASN Journals' Trainees of the Year. ASN Journals announced this year's recipients at Kidney Week and spotlighted trainee-led research across CJASN, JASN, and Kidney360.
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ISNkidneycare @theisn.org · 20/11/2025
“Kids should worry about playing and learning, not kidney disease. As a pediatric nephrologist, I witness young lives with health struggles they should never face. We have the power to change this by making kidney health a global priority #ForEveryChild” R Lou #KidneyHealthMatters #WorldChildrensDay
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 17/11/2025
One fine review ! #raredisease
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 16/11/2025
Thank you @asnpublications.bsky.social !!! This is a true honor, and a sprinkle of good luck! #FSGS #rFSGS #raredisease #APOL1 #CAKUT #NephSky #SkyNeph @asnkidney.bsky.social @isgd.bsky.social
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 14/11/2025
🎉🎉🎉🍾🍾🍾🕺🏼🕺🏼🕺🏼
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loic-yengo.bsky.social @loic-yengo.bsky.social · 12/11/2025
First time on Bsky and first big announcement! I am excited to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Our manuscript is here: www.nature.com/articles/s41....
nature.com
Estimation and mapping of the missing heritability of human phenotypes - Nature
WGS data were used from 347,630 individuals with European ancestry in the UK Biobank to obtain high-precision estimates of coding and non-coding rare variant heritability for 34 co...
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 07/11/2025
Number one, undisputed, nephrology researcher in the world ! 👏👏👏
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Nephrology Times @nephtimes.bsky.social · 07/11/2025
Katalin Susztak accepting the Homer W. Smith Award. #KidneyWk
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ASNKidney @asnkidney.bsky.social · 07/11/2025
🎉 Congratulations to Harold I. Feldman, MD, MS, MSc, FASN; Katalin Susztak, MD, PhD; and Rafael Kramann, MD, PhD, FASN for their leadership, innovation, and contributions that continue to shape the future of kidney research. #KidneyWk
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ASN Publications @asnpublications.bsky.social · 06/11/2025
The 2025 #ASNJASN #ASNCJASN and #ASNKidney360 Trainees of the Year are Benoit ​Brilland, Thomas Bais, and Yuhei Noda! This prize celebrates the best article submitted to each journal by a trainee as the first author. See more about the contest and this year's winners: kidney.pub/TraineeOf...
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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 30/10/2025
Well said @carnage4life.bsky.social #embracexenophobia and push education even further into the abyss
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ASN Publications @asnpublications.bsky.social · 29/10/2025
KidneyCure, ASN's philanthropic foundation, distributes more than $3 million annually to early-career researchers in kidney health. Read more about the fellowships and grants in #ASNKidneyNews. Applications are open until November 20! kidney.pub/KN1710-12
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