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.
Simone Sanna-Cherchi 🧬
@genetickidneydoc.bsky.social
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
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
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.
go.nature.com
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.
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...
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
Most epigenetic-editing platforms, rather than making changes to the DNA itself, modify the markers attached to DNA go.nature.com/4vEIxQg
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.
go.nature.com
#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...
We have read opinions saying that paying reviewers would not work… here there is data showing it can work
A biology journal trialled paying their reviewers and found it led to faster first editorial decisions – and increased review quality. go.nature.com/446SaLu
Great initiative!
Cooking camp for kids with kidney disease offers community-based, hands-on interventions to help children develop lifelong healthy habits while making chronic disease management less burdensome and more meaningful. https://twp.ai/9OWqKJ #ASNCJASN
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....
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. ⛱️
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.
is-gd.org
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
Among patients with high-risk #APOL1 genotypes, presence of the M1 (p.N264K) variant was associated with improved diagnostic precision for #KidneyDisease, but no protection in low-risk genotypes. ja.ma/4lme1pY
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
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
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/...
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.
science.org
New in JASN: CARE shows a hybrid path to equitable APOL1-kidney disease (AMKD) screening + trial pipelines—community partnerships = reach, EHR/MD referrals = yield. journals.lww.com/jasn/pages/a... #Nephrology #KidneyDisease #APOL1 #AMKD #HealthEquity #ClinicalTrials #PrecisionMedicine #JASN
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
🔬 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...
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.
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 #nephsky #nephrology 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.
kidney-international.org
🔥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
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of kidney failure. This #ASNJASN study developed a multivariable predictive model for progression to kidney failure: kidney.pub/JASN0950 @alanyuneph.bsky.social
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
Just imagining how much better it would be if ALL news stories about vaccine-preventable illnesses were illustrated with pictures of people with the disease, not pictures of needle injections. If you must show something that people will find scary & unpleasant, make it 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
Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of #Alport syndrome pmc.ncbi.nlm.nih.gov/articles/PMC...