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 🧬
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 ! 👏👏👏
Reposted by Simone Sanna-Cherchi 🧬
🎉 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
November 7, 2025 at 2:58 PM
🎉 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
Reposted by Simone Sanna-Cherchi 🧬
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 6, 2025 at 8:00 PM
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...
Well said @carnage4life.bsky.social #embracexenophobia and push education even further into the abyss
Ron DeSantis has told Florida universities that they shouldn’t hire foreign workers but instead only Americans.
Why hire the best from around the world to educate your kids when you can embrace xenophobia instead?
Why hire the best from around the world to educate your kids when you can embrace xenophobia instead?
Gov. DeSantis directs Florida universities to stop using H-1B visas
Florida Gov. Ron DeSantis on Wednesday directed the state university system to end using what are known as H-1B visas to hire employees from other countries.
www.nbcmiami.com
October 30, 2025 at 6:09 PM
Well said @carnage4life.bsky.social #embracexenophobia and push education even further into the abyss
Reposted by Simone Sanna-Cherchi 🧬
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
October 29, 2025 at 2:00 PM
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
Highly recommended contribution from Detlef Bockenhauer et al: a modern view of the genetic landscape of kidney diseases!
#genetics #CAKUT #FSGS #APOL1 #NephSky #SkyNeph #Medsky #raredisease #RKD
@melaniechan.bsky.social @oalavijeh.bsky.social @horiastanescu.bsky.social @dannygale.bsky.social
#genetics #CAKUT #FSGS #APOL1 #NephSky #SkyNeph #Medsky #raredisease #RKD
@melaniechan.bsky.social @oalavijeh.bsky.social @horiastanescu.bsky.social @dannygale.bsky.social
In a new "Mechanisms of Kidney Disease" article in #ASNJASN, authors explore population studies and the genetic architecture of kidney diseases, highlighting a spectrum of risk. Read more: kidney.pub/JASN0893
@dannygale.bsky.social
@dannygale.bsky.social
October 13, 2025 at 9:44 PM
Highly recommended contribution from Detlef Bockenhauer et al: a modern view of the genetic landscape of kidney diseases!
#genetics #CAKUT #FSGS #APOL1 #NephSky #SkyNeph #Medsky #raredisease #RKD
@melaniechan.bsky.social @oalavijeh.bsky.social @horiastanescu.bsky.social @dannygale.bsky.social
#genetics #CAKUT #FSGS #APOL1 #NephSky #SkyNeph #Medsky #raredisease #RKD
@melaniechan.bsky.social @oalavijeh.bsky.social @horiastanescu.bsky.social @dannygale.bsky.social
Reposted by Simone Sanna-Cherchi 🧬
🆕 Transforming glomerular disease care starts here. The Glomerular Diseases (GD) Compendium is an open-access hub for the latest research, clinical guidance, treatment resources, and patient education—all in one place.
Start exploring now: bit.ly/gdCompendium
Start exploring now: bit.ly/gdCompendium
October 9, 2025 at 5:05 PM
🆕 Transforming glomerular disease care starts here. The Glomerular Diseases (GD) Compendium is an open-access hub for the latest research, clinical guidance, treatment resources, and patient education—all in one place.
Start exploring now: bit.ly/gdCompendium
Start exploring now: bit.ly/gdCompendium
Reposted by Simone Sanna-Cherchi 🧬
🗳️ Election results are in! Join ASN in congratulating Benjamin D. Humphreys, MD, PhD, FASN, as Executive Councilor and Rasheed A. Gbadegesin, MBBS, MD, FASN, as At-Large Councilor. Their terms begin January 1, 2026.
September 25, 2025 at 9:16 PM
🗳️ Election results are in! Join ASN in congratulating Benjamin D. Humphreys, MD, PhD, FASN, as Executive Councilor and Rasheed A. Gbadegesin, MBBS, MD, FASN, as At-Large Councilor. Their terms begin January 1, 2026.
Reposted by Simone Sanna-Cherchi 🧬
"Building a Unified Future: The ASN Journal Portfolio 2 Years In." Dr. Raj Mehrotra, Senior Editor-in-Chief of the portfolio, spoke with Kidney News about the portfolio's success and future goals. @rajmehrotra.bsky.social @asnkidney.bsky.social #kidney #nephsky
www.kidneynews.org/view/journal...
www.kidneynews.org/view/journal...
October 9, 2025 at 5:41 PM
"Building a Unified Future: The ASN Journal Portfolio 2 Years In." Dr. Raj Mehrotra, Senior Editor-in-Chief of the portfolio, spoke with Kidney News about the portfolio's success and future goals. @rajmehrotra.bsky.social @asnkidney.bsky.social #kidney #nephsky
www.kidneynews.org/view/journal...
www.kidneynews.org/view/journal...
Reposted by Simone Sanna-Cherchi 🧬
New from #NephFaculty Dr Barisoni and Colleagues in @ASNPublications JASN
Computational Characterization of Lymphocyte Topology on Whole Slide Images of Glomerular Diseases
journals.lww.com/jas...
Computational Characterization of Lymphocyte Topology on Whole Slide Images of Glomerular Diseases
journals.lww.com/jas...
October 9, 2025 at 2:39 AM
New from #NephFaculty Dr Barisoni and Colleagues in @ASNPublications JASN
Computational Characterization of Lymphocyte Topology on Whole Slide Images of Glomerular Diseases
journals.lww.com/jas...
Computational Characterization of Lymphocyte Topology on Whole Slide Images of Glomerular Diseases
journals.lww.com/jas...
Reposted by Simone Sanna-Cherchi 🧬
"Peer review is a cornerstone of scientific advancement - it ensures the integrity and quality of information that is used to generate further knowledge." - Monica Syet Ying Ng, an #ASNJASN Top Reviewer of 2025.
October 6, 2025 at 5:00 PM
"Peer review is a cornerstone of scientific advancement - it ensures the integrity and quality of information that is used to generate further knowledge." - Monica Syet Ying Ng, an #ASNJASN Top Reviewer of 2025.
PARASOL Project is expanding focus to include biomarkers & endpoints in APOL1 kidney disease and primary MN as well as FSGS. Learn more: eu1.hubs.ly/H0nr8Lv0
@tobias-b-huber.bsky.social @miktmc.bsky.social @jarcyzphd.bsky.social @ohiostatemed.bsky.social @utoronto.ca @nu-nephrology.bsky.social
@tobias-b-huber.bsky.social @miktmc.bsky.social @jarcyzphd.bsky.social @ohiostatemed.bsky.social @utoronto.ca @nu-nephrology.bsky.social
PARASOL Project Expands Focus to APOL1, Membranous Nephropathy
PARASOL Project expands to focus on APOL1 kidney disease and primary membranous nephropathy, aiming to improve clinical trial endpoints for these conditions.
eu1.hubs.ly
October 3, 2025 at 1:35 PM
Great issue! Klf6 inducing Polr2a in #AKI by Sandeep Mallipattu; new developmental origin of thin descending limb of LoH by Joo-Seop Park; eGFR #GWAS loci in #diabetes by Joel Hirschhorn; and much more
@asnkidney.bsky.social
#genetics #development
@asnkidney.bsky.social
#genetics #development
The October issue of JASN is now available online! Topics covered this month include: - Peer Mentoring and Hospitalizations in Hemodialysis - AKI Risk Classification- and more Check out the issue here: kidney.pub/JASN-1025 #ASNJASN Cover by Chung et al.
October 1, 2025 at 5:34 PM
Great issue! Klf6 inducing Polr2a in #AKI by Sandeep Mallipattu; new developmental origin of thin descending limb of LoH by Joo-Seop Park; eGFR #GWAS loci in #diabetes by Joel Hirschhorn; and much more
@asnkidney.bsky.social
#genetics #development
@asnkidney.bsky.social
#genetics #development
Working from home with these two cuties can be soothing and boost productivity ❤️
#NephSky #raredisease #APOL1 #FSGS #CAKUT
#NephSky #raredisease #APOL1 #FSGS #CAKUT
September 12, 2025 at 2:02 PM
Working from home with these two cuties can be soothing and boost productivity ❤️
#NephSky #raredisease #APOL1 #FSGS #CAKUT
#NephSky #raredisease #APOL1 #FSGS #CAKUT
Great to see that there are still activities and initiatives supporting training and providing excitement for young physicians and scientists, even in this progressively demotivating climate ! And I spot sir Martin Pollak in the crowd :)
Had a great time at #mountdesertisland renal physiology course! I have the opportunity to learn renal physiology in a supportive environment with wonderful nephrologists and scientists! #markzeidel #martinpollak #patriciasilva
September 11, 2025 at 2:23 AM
Great to see that there are still activities and initiatives supporting training and providing excitement for young physicians and scientists, even in this progressively demotivating climate ! And I spot sir Martin Pollak in the crowd :)
Fantastic new @science.org paper from Ron Do @sinaigenetics.bsky.social on penetrance estimates from large EHR populations, 10 traits, >1,600 rare variants!
👏👏👏
#humangenetics #raredisease #NephSky #MedSky
www.science.org/doi/10.1126/...
👏👏👏
#humangenetics #raredisease #NephSky #MedSky
www.science.org/doi/10.1126/...
Machine learning–based penetrance of genetic variants
Accurate variant penetrance estimation is crucial for precision medicine. We constructed machine learning (ML) models for 10 diseases using 1,347,298 participants with electronic health records, then ...
www.science.org
August 28, 2025 at 8:08 PM
Fantastic new @science.org paper from Ron Do @sinaigenetics.bsky.social on penetrance estimates from large EHR populations, 10 traits, >1,600 rare variants!
👏👏👏
#humangenetics #raredisease #NephSky #MedSky
www.science.org/doi/10.1126/...
👏👏👏
#humangenetics #raredisease #NephSky #MedSky
www.science.org/doi/10.1126/...