Simone Sanna-Cherchi 🧬
@genetickidneydoc.bsky.social
Leveraging genetic diversity to mitigate kidney disease and inequality
#genetics #pediatrics #nephrology #FSGS #rFSGS #CAKUT #humangenetics Views are our own
Lab Website: https://columbianephrology.org/sanna-cherchi-lab-welcome/
#genetics #pediatrics #nephrology #FSGS #rFSGS #CAKUT #humangenetics Views are our own
Lab Website: https://columbianephrology.org/sanna-cherchi-lab-welcome/
Reposted by Simone Sanna-Cherchi 🧬
🔬 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...
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...
February 5, 2026 at 7:44 PM
🔬 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...
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...
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.
www.kidney-international.org
December 29, 2025 at 8:35 PM
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...
www.kidney-international.org/article/S008...
Reposted by Simone Sanna-Cherchi 🧬
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...
#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.
www.kidney-international.org
December 24, 2025 at 3:15 PM
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...
#nephsky #nephrology
www.kidney-international.org/article/S008...
Reposted by Simone Sanna-Cherchi 🧬
🔥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
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
December 24, 2025 at 9:08 PM
🔥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
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
Reposted by Simone Sanna-Cherchi 🧬
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
December 4, 2025 at 3:00 PM
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
Reposted by Simone Sanna-Cherchi 🧬
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...
www.statnews.com/2025/12/03/f...
December 4, 2025 at 1:37 AM
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...
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.
I'm so tired of measles.
I'm also tired of people using needle shots on stories like this.
Show what measles looks like.
I'm also tired of people using needle shots on stories like this.
Show what measles looks like.
December 2, 2025 at 5:43 PM
Well said! If you want to show something scary, show the disease not the cure
Reposted by Simone Sanna-Cherchi 🧬
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.
December 2, 2025 at 12:28 PM
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...
Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome
Alport syndrome (AS) is a hereditary kidney disorder caused by mutations in COL4A3, COL4A4, and COL4A5, which often lead to progressive renal failure. Although angiotensin II receptor blockers are available for symptomatic treatment, no radical or ...
pmc.ncbi.nlm.nih.gov
December 2, 2025 at 3:21 AM
Nice! One of the many ways we can envision gene / genetic driven therapies! #treatingtheuntreatable #genetics #Alport #raredisease
Reposted by Simone Sanna-Cherchi 🧬
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...
December 1, 2025 at 7:54 PM
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...
Reposted by Simone Sanna-Cherchi 🧬
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.
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.
December 1, 2025 at 8:00 PM
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.
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.
Reposted by Simone Sanna-Cherchi 🧬
November 30, 2025 at 11:00 PM
Perfect indeed to spot DBs at distance :)
It hasn’t been a total flop. As a tool for spotting douchebags it’s been a perfect 10.
Tesla’s Cybertruck is turning 2. It’s been a big flop.
CEO Elon Musk once described the Cybertruck as Tesla’s “best ever” product. But demand for the controversial pickup truck has dried up.
www.marketwatch.com
November 30, 2025 at 6:24 PM
Perfect indeed to spot DBs at distance :)
Reposted by Simone Sanna-Cherchi 🧬
Reposted by Simone Sanna-Cherchi 🧬
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
November 27, 2025 at 6:00 PM
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
Reposted by Simone Sanna-Cherchi 🧬
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
November 25, 2025 at 4:00 PM
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
More to come soon on M1…. Stay tuned :)
@bhallaresearch.bsky.social
@gbadegesinlab.bsky.social @kidneyomicsamps.bsky.social
Prevalence of the M1 Modifier p.N264K in APOL1 Among Individuals With Kidney Disease Undergoing Commercial Genetic Testing in the United States
bit.ly/48PB2xk (FREE)
bit.ly/48PB2xk (FREE)
November 25, 2025 at 2:02 PM
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
More to come soon on M1…. Stay tuned :)
@bhallaresearch.bsky.social
@gbadegesinlab.bsky.social @kidneyomicsamps.bsky.social
Reposted by Simone Sanna-Cherchi 🧬
🎉 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.
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...
See more about the contest and this year's winners: kidney.pub/TraineeOf...
November 24, 2025 at 8:57 PM
🎉 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.
Reposted by Simone Sanna-Cherchi 🧬
“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
November 20, 2025 at 12:33 PM
“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
Review by Anthony Bleyer et al:
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
bit.ly/3VgPMNS (FREE)
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review
bit.ly/3VgPMNS (FREE)
November 17, 2025 at 2:08 AM
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
This is a true honor, and a sprinkle of good luck!
#FSGS #rFSGS #raredisease #APOL1 #CAKUT #NephSky #SkyNeph
@asnkidney.bsky.social
@isgd.bsky.social
Celebrate this winner of the Distinguished Researcher Award, an ASN Midcareer Award: Simone Sanna-Cherchi MD. His research brings together investigators across disciplines and continents to study complex, understudied kidney conditions. Read more in #ASNKidneyNews: kidney.pub/KN1710-45
November 16, 2025 at 12:28 AM
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
This is a true honor, and a sprinkle of good luck!
#FSGS #rFSGS #raredisease #APOL1 #CAKUT #NephSky #SkyNeph
@asnkidney.bsky.social
@isgd.bsky.social
🎉🎉🎉🍾🍾🍾🕺🏼🕺🏼🕺🏼
Congrats to ISGD Members @ksusztak.bsky.social, @rkramann.bsky.social , Laura Mariani, and @genetickidneydoc.bsky.social on receiving major ASN awards! And congratulations to ISGD members who contributed to this year's amazing scientific content 💡#ISGD #KidneyWeek2025 @tobias-b-huber.bsky.social
November 14, 2025 at 11:20 PM
🎉🎉🎉🍾🍾🍾🕺🏼🕺🏼🕺🏼
Reposted by Simone Sanna-Cherchi 🧬
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....
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....
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...
www.nature.com
November 12, 2025 at 5:57 PM
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....
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....
Number one, undisputed, nephrology researcher in the world ! 👏👏👏
Katalin Susztak accepting the Homer W. Smith Award. #KidneyWk
November 7, 2025 at 3:17 PM
Number one, undisputed, nephrology researcher in the world ! 👏👏👏