Simone Sanna-Cherchi 🧬

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

New Discovery May Improve Kidney Disease Diagnosis in Black Patients A closer examination of the APOL1 gene in Black patients with kidney disease can provide more precise diagnoses than current protocols.

and a little press release from @columbiauniversity.bsky.social
www.cuimc.columbia.edu/news/new-dis...

@columbiakidney.bsky.social
@isgd.bsky.social
@cuimcglomcenter.bsky.social
@glomcon.org

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...

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...

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

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.

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/...

Great paper !!!
#APOL1 #FSGS

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

This week's cover @thelancet.com

🔬 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...

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.

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...

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.

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...

🔥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

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

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...

Well said! If you want to show something scary, show the disease not the cure

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.

Nice! One of the many ways we can envision gene / genetic driven therapies! #treatingtheuntreatable #genetics #Alport #raredisease

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...

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.

EDITORIAL: Gaining a Genomic Foothold on Unexplained Kidney Failure

bit.ly/4onuhqE (FREE)

Perfect indeed to spot DBs at distance :)

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.

Five years ago, researchers at Google DeepMind unveiled AlphaFold2

go.nature.com/44rM1di

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

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

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

🎉 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.

“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

One fine review !

#raredisease

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

🎉🎉🎉🍾🍾🍾🕺🏼🕺🏼🕺🏼