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Reposted by Simone Sanna-Cherchi 🧬

Duke Kidney @dukekidney.bsky.social · 13h

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...

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 2d

that's one cute Chihuahua!

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Reposted by Simone Sanna-Cherchi 🧬

ASN Publications @asnpublications.bsky.social · 2d

"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.

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 6d

Exciting expansion!!
#FSGS #APOL1

International Society of Glomerular Disease @isgd.bsky.social · 6d

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

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

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 7d

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

ASN Publications @asnpublications.bsky.social · 7d

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.

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 27d

Working from home with these two cuties can be soothing and boost productivity ❤️
#NephSky #raredisease #APOL1 #FSGS #CAKUT

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · 28d

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 :)

Farhana Begum @gfr-hana.bsky.social · 28d

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

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 28

Completely agree! Our style is opposite: very short/tight introduction to avoid loosing immediately the reader, long and detailed methods and results (with additional details in supplement), and short discussion again (and if you don't have time, skip it and read only the limitations)

Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 28

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/...

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

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Reposted by Simone Sanna-Cherchi 🧬

KDIGO @kdigo.org · Aug 13

The KDIGO APOL1 Kidney Disease Conference Report is now available in @kidneyint.bsky.social! Co-chaired by Dr. Akinlolu Ojo (US) & Dr. Ifeoma Ulasi (NG) in Accra, Ghana, the meeting united global experts to address the urgent, inequitable burden of #APOL1.

Read the report: kdigo.co/APOL1-Confer...

APOL1 kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

In people of African ancestry, apolipoprotein L1 gene (APOL1) variants have been identified as causing increased risk of progressive chronic kidney disease (CKD). In April of 2024, Kidney Disease: Imp...

kdigo.co

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Reposted by Simone Sanna-Cherchi 🧬

KDIGO @kdigo.org · Aug 18

Inside:
- KDIGO & ERA sign new MoU

- #APOL1 Conference Report in @kidneyint.bsky.social

- Take the KDIGO Guideline Survey: kdigo.co/Global-Guide...

- KDIGO at SLANH & ANZSN

- New patient resources incl. a #C3G #ICMPGN program with @medliveofficial.bsky.social , @nordrare.bsky.social & NephCure

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 20

Building figures for grants, papers and presentations with Biorender...and you might get a free license: we don't leave any opportunity out

#BioRenderForGrants

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 19

I spent >20y to try to make a name of myself with hard research, and the Gloria (formerly Nicki), the dog we just rescued, is already famous and published on Vogue!
@teenvogue.com @time.com @nytimes.com
#americanbulldog #bostonterrier #NephSky #SkyNeph #MedSky

web.archive.org/web/20250819...

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 18

Thank you @opeyemiolabisi.bsky.social and the whole @dukekidney.bsky.social , @gbadegesinlab.bsky.social , Laura Barisoni et al!
It was a great couple of days of scientific excellence mixed with pleasant company and nice weather.
#APOL1 #FSGS #rFSGS #genetics #pediatrics #NephSky #SkyNeph #Medsky

Opeyemi Olabisi @opeyemiolabisi.bsky.social · Aug 18

It was a pleasure to have Dr. Sanna-Cherchi @genetickidneydoc.bsky.social give an excellent, well-attended, Renal Grand Rounds at @dukekidney.bsky.social He is an embodiment of collaborative excellence💪🏾 @columbiakidney.bsky.social

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Reposted by Simone Sanna-Cherchi 🧬

Naomi 🐺 @naomiwolf.bsky.social · Aug 10

a specific skill I've developed over the past ~20 years is crafting responses to emails sent to me, but intended for that other Naomi Wolf

my reply:

personally, i'd recommend you follow the advice of your doctor. but what do i know, i'm just a random person you emailed. I have no more formal education around botox than the author Naomi Wolf, whose advice I assume you were actually seeking. but since you emailed me, my suggestion is that you listen to your kid's urologist, who is a trained medical professional, rather than seeking out medical advice from someone with an english degree and a history of making significant errors in her research.

best of luck!

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Reposted by Simone Sanna-Cherchi 🧬

ASN Publications @asnpublications.bsky.social · Aug 11

Large-scale kidney transcriptomics identified a 12-gene signature, including CLU and C3, predicting kidney failure in ANCA-associated vasculitis. Read more in #ASNJASN: kidney.pub/JASN0779

@benoitbrilland.bsky.social

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 9

Considering the last 6 months, even by 3 seconds each time would make me immortal

Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 7

Fresh online on @natcomms.nature.com ! Great collaboration with the lead team at GharaviLab / CPMG.
Large exome-wide analysis that points to many findings, including two novel genes: ARID3A and NR6A1.
#CAKUT #humangenetics #development #pediatrics #NephSky #SkyNeph

www.nature.com/articles/s41...

Exome analysis links kidney malformations to developmental disorders and reveals causal genes - Nature Communications

The authors analyze rare coding variants in 1990 individuals with congenital kidney anomalies, finding diagnostic variants in 14.1% of cases. They identify two new causal genes, ARID3A and NR6A1, alon...

www.nature.com

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 1

Amazing! New species = new DNA to sequence = new knowledge = new breakthroughs at the horizon . Science won’t stop

Nature @nature.com · Jul 31

This surprisingly relaxing footage is from SIX MILES under the ocean – and it’s the deepest ecosystem yet discovered

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Aug 1

More then often

Reposted by Simone Sanna-Cherchi 🧬

Nature @nature.com · Jul 20

Physicists have detected the biggest ever merger of colliding black holes

go.nature.com/4lxMnph

Monster black hole merger is biggest ever seen

Nature - Gravitational wave detector LIGO spots fast-spinning ‘forbidden’ black holes that challenge physics models.

go.nature.com

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Jul 19

I mostly care when reviewers ask me to put it in a grant or a paper, but I do not use it to guide my genetic discovery studies. Then again, I am an applied geneticist so my view might be a bit superficial

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Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Jul 19

Who would've thought!

Simone Sanna-Cherchi 🧬 @genetickidneydoc.bsky.social · Jul 19

I guess in that place also the normal serum albumin is 4g/L…

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Reposted by Simone Sanna-Cherchi 🧬

TizzyWoman @tizzywoman.bsky.social · Jul 17

As the world moves on, the FARM WORKER community does not. Listen to the pain of broken promises from a country that they’ve given their lives & bodies to. They’re calling on YOU to withhold your money for 3 days as they pause their labor. #FarmworkersStrike4Dignity

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