genetickidneydoc.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

My most recent weekend on call: nephrology recommending hydralazine to cardiology... now I've seen them all :) #NephSky #MedSky #CardioSky

submitted 3 days ago • 0 comments

It was great to host Jennifer Charlton for our Columbia Renal Grand Rounds! Fantastic talk: nephron endowment makes #CAKUT & #CKD, as well as #nephrology & #pediatricnephrology meet! #NephSky #MedSky @columbiauniversity.bsky.social @columbiamed.bsky.social #UVASky

submitted 8 days ago • 0 comments

I hope this experience will bring us together. We have seen scientists battling reviewers battling officers, independently of the role we would cover at that moment. It's even more clear now: we all play for the same team, we want progress to happen, we know what is against progress and science.

submitted 17 days ago • 0 comments

Worried like me about the future of biomedical research? Let's fly to Europe and enjoy a few days of science and fun, far from conspiracy theories, childish self-destructive propaganda, and misinformation. #FSGS #rFSGS #APOL1 #Nephsky #Medsky

submitted 18 days ago • 0 comments

Not only an awesome paper! But it also saves me a long pubmed search to look for something to present at Journal Club this week :) Thank you twice @ksusztak.bsky.social !! In these surreal times, science still shows us a way forward. #Nephsky #Medsky #Genetics #science

submitted 19 days ago • 0 comments

Hard times ahead.. Watch out, a command+F (or ctrl+F for non Mac users) that finds "diversity" can kill your grant. My R01 purely on CRKL transcript isoforms characterization in kidney development (due for review this coming week) has just been cancelled..

submitted 19 days ago • 5 comments

More from my recent trip to Ghana: this is Sankofa. In Akan means "to retrieve" or "go back and get it" and it is an invitation to learn from your past to build a better future. Learning from the past makes us who we are now. Straightforward? Current events do not indicate we are doing it well...

submitted 29 days ago • 0 comments

Very encouraging !! 💪🏼

submitted 29 days ago • 0 comments

"Why study genetic diseases when you cannot treat them?" We've seen these comments from grants' reviewers way too many times Wrong! Genetics offers a myriad of possibilities for targeted treatments: here is one and it's happening now! @asnpublications.bsky.social journals.lww.com/jasn/fulltex...

submitted 30 days ago • 0 comments

Tequila boom boom was lethal back then already... Easy jokes apart, understanding the evolution of what eats what - predator/prey is interesting and has many ramifications for modern science. As the discoverer says: "World's most famous piece of puke"

submitted 30 days ago • 0 comments

Great! That's reassuring! I was worried about a slowdown or even a move back to the other platform... #Nephsky is healthy!

submitted 30 days ago • 0 comments

👏👏👏 @kronbichlerlab.bsky.social #FSGS #Nephroticsyndrome #APOL1 just one small note on %FPE/genetics. The concept that genetic forms have ⬇️FPE is confounded. Most FSGS related to slit-diaphragm genes presenting with NS have ⬆️FPE. We see nearly total FPE with TRPC6, INF2, NPHS1, NPHS2, MYO1E et al

submitted 31 days ago • 0 comments

Cool! Modern humans history is interesting and relevant to current humans. I might need a little help interpreting few points in this paper, like the ‘failed’ out-of-Africa migrations.. Any ancient genome/population geneticist wants to break down this paper? #Humanevolution #Neanderthal #Admixture

submitted 31 days ago • 0 comments

New faculty website profile picture! Do not mess with this Italian guy.... "Are you talking to me?" #Nephsky #Nephstrong

submitted 35 days ago • 0 comments

One year at JASN! While we try to bring excellence to our beloved Journal, some people have left - @alessiafornoni.bsky.social - and some joined: welcome to new Deputy Editor Alan S.L. Yu @alanyuneph.bsky.social ! #Nephsky #Skyneph #Medsky @asnkidney.bsky.social

submitted 37 days ago • 2 comments

Thank you Rasheed!! An honor to write this small piece for the @nejm.org ! #APOL1 #FSGS

submitted 42 days ago • 0 comments

Just published in #JASN this commentary to our recent article on TRPC6 associated podocytopathy. Studying rare forms of rare diseases might be challenging but can provide information that matters for many. #FSGS @isgd.bsky.social @cuimcglomcenter.bsky.social journals.lww.com/jasn/citatio...

submitted 46 days ago • 0 comments

Just came back from an intense trip to Ghana, visited Dr. Dowmoa Adu in Accra and learned a bit of history of West Africa. This is Duafe, the symbol of beauty. It's a comb but looks a lot like our podocyte :) #APOL1 #FSGS @apollonetwork13.bsky.social @gbadegesinlab.bsky.social @thejah.bsky.social

submitted 49 days ago • 0 comments

Missed #KidneyWk 2024? Here’s your chance to access 250+ hours of on-demand Early Programs and Annual Meeting lectures filled with the latest nephrology insights. 📚 Explore Kidney Week On Demand™ anytime, anywhere, all at your fingertips. 💻 🔗http://asn.kdny.info/PzF150Uvkbn

submitted 50 days ago • 0 comments

Very nice! Conceptually not surprising and already hidden in the decade-long (or more) experience in gwas and rare variant burden association studies, but very elegantly and comprehensively described 👏👍🏽

submitted 73 days ago • 1 comment

Challenging when annotating variants, especially for discovery studies. And when looking at different transcripts for each gene, the numbers and sequences change wildly across databases. Many transcripts share only the gene name and not the function: the question mark on encoded proteins is huge

submitted 75 days ago • 0 comments

Fantastic! From the University of Parma, where I did my med school and (first) nephrology training, and where, “when you eat bad food, you are eating delicious food” and everything else is even better :) #parmigiano #prosciutto #tortelli #Nephsky #Medsky

submitted 75 days ago • 0 comments

Fantastic talk and nice visit from Shamil Sunyaev yesterday for our "Seminar in Precision Medicine" series! A rare variants methods buffet for us :) #humangenetics #genetics #Nephsky #Medsky @broadinstitute.org @columbiauniversity.bsky.social

submitted 77 days ago • 0 comments

Genotype-first approach for COL4A5 variants in the Geisinger Health System! Fresh on JASN! @asnkidney.bsky.social #FSGS #Nephsky #Medsky #Alport journals.lww.com/jasn/abstrac...

submitted 77 days ago • 0 comments

How did the #APOL1 protective variant arise on the G2 haplotype? My initial guess was by independent mutational event, but look at this: a close proximity recombination event between G0 and G2. Read this report from Martin Pollak team to which we contributed #FSGS academic.oup.com/g3journal/ad...

submitted 79 days ago • 0 comments

And now a tip.. if you are short, don't take pictures in between tall handsome people, hugging them from the back.. unless you want to look like this 😂 weirdly hanging @dukekidney.bsky.social rules #rFSGSConference #rFSGS #FSGS #Nephsky #Medsky @gbadegesinlab.bsky.social @opeyemiolabisi.bsky.social

submitted 79 days ago • 1 comment

With my ladies in DC! Left: @francescaambrogio.bsky.social Right: @alessiafornoni.bsky.social #rFSGSConference #rFSGS #FSGS #WashingtonDC #RareDisease #Nephsky #Medsky @rfsgsinitiative.bsky.social

submitted 79 days ago • 0 comments

What a meeting! With my co-program director @alessiafornoni.bsky.social and co-organizers Elie and Gary Torgow we pulled together, in a short time, an amazing and diverse group of people united in the fight against #rFSGS. @rfsgsinitiative.bsky.social #FSGS #raredisease #Nephsky #Medsky

submitted 79 days ago • 0 comments

Fantastic Miami team at the #rFSGS conference!! @rfsgsinitiative.bsky.social @kidneyomicsamps.bsky.social @gbadegesinlab.bsky.social @opeyemiolabisi.bsky.social

submitted 80 days ago • 0 comments

We’re so grateful for support of Congressman John Moolenaar, Congresswoman Haley Stevens & Senator Debbie Stabenow for their support of our fight to treat, cure & prevent recurrent FSGS @rfsgsinitiative.bsky.social @genetickidneydoc.bsky.social @gbadegesinlab.bsky.social @opeyemiolabisi.bsky.social

submitted 81 days ago • 1 comment

A great keynote by Moin Saleem from Bristol UK, followed by a terrific discussion @rfsgsinitiative.bsky.social @genetickidneydoc.bsky.social @opeyemiolabisi.bsky.social @gbadegesinlab.bsky.social

submitted 81 days ago • 0 comments

Thank you to Congressman @shrithanedar.bsky.social for his support of @rfsgsinitiative.bsky.social @genetickidneydoc.bsky.social @gbadegesinlab.bsky.social @opeyemiolabisi.bsky.social

submitted 81 days ago • 0 comments

Amazing, the story of the humble beginning of Congressman Shri Thanedar of Michigan @shrithanedar.bsky.social The only Pharmaceutics researcher in Congress. In him we have a huge champion for #rFSGS @rfsgsinitiative.bsky.social @kidneyomicsamps.bsky.social @genetickidneydoc.bsky.social

submitted 81 days ago • 0 comments

My lovely wife just joined Bluesky! Please follow her. She’s a superstar dentist teaching to the next generation dental students at Columbia and, among many things, she handles the graphics of my lab website 😉 @francescaambrogio.bsky.social

submitted 80 days ago • 0 comments

Great meeting!! Tough problem(s) requiring great minds and stakeholders with “can do attitude”. Amazing listening to Congresswoman Haley Stevens of Michigan linking biomedical research and workforce development to National defense!! @rfsgsinitiative.bsky.social

submitted 81 days ago • 0 comments

We've kicked off the first-ever #rFSGSConference! We look forward to an impactful day by and for #rFSGS patients. #RareDisease #KidneyTransplant

submitted 81 days ago • 1 comment

Terrific kick off for our #rFSGSComference tonight! Dinner with 100 people, most were patients/family members. And the Honorable Congressman @shrithanedar.bsky.social gave a heartfelt talk about the role of government in promoting human wellbeing by addressing rare diseases. Truly inspiring 👏👏👏

submitted 81 days ago • 0 comments

For the torrid torsemide groupies (ahem @captainchloride.bsky.social @kidneyboy.bsky.social ) A dash of cold water from Qais Al-Awqati JASN editorial: journals.lww.com/jasn/fulltex... 1/

submitted 84 days ago • 3 comments