Simone Sanna-Cherchi 🧬's Avatar

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/

665 Followers  |  252 Following  |  232 Posts  |  Joined: 20.11.2024  |  1.9204

Latest posts by genetickidneydoc.bsky.social on Bluesky

Dr. Raj Mehrotra's photo and the opening paragraph of the article.

Dr. Raj Mehrotra's photo and the opening paragraph of the article.

"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...

09.10.2025 17:41 β€” πŸ‘ 5    πŸ” 2    πŸ’¬ 0    πŸ“Œ 0
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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...

09.10.2025 02:39 β€” πŸ‘ 2    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0

that's one cute Chihuahua!

06.10.2025 18:22 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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"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.

06.10.2025 17:00 β€” πŸ‘ 5    πŸ” 2    πŸ’¬ 0    πŸ“Œ 0

Exciting expansion!!
#FSGS #APOL1

03.10.2025 13:35 β€” πŸ‘ 2    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

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

01.10.2025 17:34 β€” πŸ‘ 3    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0
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Working from home with these two cuties can be soothing and boost productivity ❀️
#NephSky #raredisease #APOL1 #FSGS #CAKUT

12.09.2025 14:02 β€” πŸ‘ 7    πŸ” 0    πŸ’¬ 2    πŸ“Œ 0

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 :)

11.09.2025 02:23 β€” πŸ‘ 5    πŸ” 1    πŸ’¬ 1    πŸ“Œ 0

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)

28.08.2025 20:24 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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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 ...

Fantastic new @science.org paper from Ron Do @sinaigenetics.bsky.social on penetrance estimates from large EHR populations, 10 traits, >1,600 rare variants!
πŸ‘πŸ‘πŸ‘
#humangenetics #raredisease #NephSky #MedSky

www.science.org/doi/10.1126/...

28.08.2025 20:08 β€” πŸ‘ 6    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0
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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...

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...

13.08.2025 18:30 β€” πŸ‘ 4    πŸ” 2    πŸ’¬ 0    πŸ“Œ 0
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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

18.08.2025 15:06 β€” πŸ‘ 3    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0
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Building figures for grants, papers and presentations with Biorender...and you might get a free license: we don't leave any opportunity out

#BioRenderForGrants

20.08.2025 13:15 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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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...

19.08.2025 18:01 β€” πŸ‘ 3    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0

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

18.08.2025 21:38 β€” πŸ‘ 6    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0
email to me:

Our disabled son has CP and bladder spasms so urologist is recommending Botox treatments and we read your article and are concerned about the presence of mRNA in the Botox.  

Is mRNA in all brands?
How can we know if it is in there?
Is there a safe brand you recommend?

He has to have this so what do we do?

Thanks

email to me: Our disabled son has CP and bladder spasms so urologist is recommending Botox treatments and we read your article and are concerned about the presence of mRNA in the Botox. Is mRNA in all brands? How can we know if it is in there? Is there a safe brand you recommend? He has to have this so what do we do? Thanks

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!

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!

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

10.08.2025 20:45 β€” πŸ‘ 8921    πŸ” 1162    πŸ’¬ 173    πŸ“Œ 80
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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

11.08.2025 15:00 β€” πŸ‘ 2    πŸ” 1    πŸ’¬ 0    πŸ“Œ 1

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

09.08.2025 13:39 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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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...

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...

07.08.2025 19:13 β€” πŸ‘ 4    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0

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

01.08.2025 19:11 β€” πŸ‘ 1    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0

More then often

01.08.2025 00:09 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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Monster black hole merger is biggest ever seen Nature - Gravitational wave detector LIGO spots fast-spinning β€˜forbidden’ black holes that challenge physics models.

Physicists have detected the biggest ever merger of colliding black holes

go.nature.com/4lxMnph

20.07.2025 14:41 β€” πŸ‘ 63    πŸ” 13    πŸ’¬ 0    πŸ“Œ 4

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

19.07.2025 18:07 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

Who would've thought!

19.07.2025 12:42 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

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

19.07.2025 10:30 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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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

17.07.2025 15:31 β€” πŸ‘ 307    πŸ” 182    πŸ’¬ 21    πŸ“Œ 10
Summary - The Columbia Renal Biopsy Course 2025

The historic Columbia Renal Biopsy Course is ON!
Do not miss it!
Also, with a little participation from myself to talk about #APOL1 kidney disease

web.cvent.com/event/c5d72a...

17.07.2025 17:10 β€” πŸ‘ 2    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

That’s right! Scientists are constantly distracted , and now much more, by quacks who confound opinions with facts

17.07.2025 12:30 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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Ancient proteins rewrite the rhino family tree β€” are dinosaurs next? Nature - Molecules from 20-million-year-old teeth are among the oldest ever sequenced.

Molecules from 20-million-year-old rhino-relative teeth are among the oldest ever sequenced

go.nature.com/3GwHjlY

13.07.2025 14:31 β€” πŸ‘ 52    πŸ” 7    πŸ’¬ 2    πŸ“Œ 0

Just awfully dangerous

13.07.2025 13:57 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

@genetickidneydoc is following 19 prominent accounts