🌟 DC Spotlight: Jeremy Power (Université de Toulouse)

Prenatal CAKUT: how uncertainty affects counselling & decisions.

Secondment: RD Nephrologie (Montpellier).

#PICKEDproject #CAKUT #PrenatalDiagnosis #Ethics #KidneyHealth

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+) - European Journal of Human Genetics European Journal of Human Genetics - Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

📢 Clinical exome sequencing identified 27% of Congenital Anomalies of the Kidney and Urinary Tract ( #CAKUT) cases, surpassing standard gene panels. 🧬
#Genetics #RareDisease

New risk genes have been uncovered ⬇️
www.nature.com/articles/s41...

Figure 3. Subnetworks derived from kidney development pathways, extended with chemical compound information and annotated with the compounds’ usages in humans. (a) Subnetwork showing interactions of known nephrotoxic compounds with kidney development pathway proteins. (b) Herbicidal compounds interacting with kidney development pathway proteins. (c) Chemical compounds binding to or affecting expression of GDNF. AMP, adenosine monophosphate.

new paper describing 5 #CAKUT pathways, WP4823, WP4830, WP5052, WP5053, and WP5236: "Here, we develop and describe fully machine-readable, well-annotated pathways to visualize and analyze key events during kidney development." https://doi.org/10.1016/j.kint.2025.09.032

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

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

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

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...

It’s not just working and giving talks at the 7th International Renal Meeting with @mayoclinic.org in #Sardinia
#FSGS #rFSGS #CAKUT #RareDisease #APOL1 #NephSky #SkyNeph #MedSky

Great to see @alessiafornoni.bsky.social and Pars in #Cagliari for the 7th renal meeting with @mayoclinic.org in #Sardinia
#FSGS #rFSGS #CAKUT #RareDisease #APOL1 #NephSky #SkyNeph #MedSky

What's new in renal genetics? Exome sequencing identifies de novo variants in #CAKUT in a significant percentage of cases. SOX13 is a promising #candidategene. bit.ly/4mqbQlv

Interesting! Transplanting developing metanephros and urinary tract into anephric rats resulted in maturation of organs that functioned for >1 month
#development #kidneytransplant #CAKUT

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

Nice! #CAKUT phenotypes make for great cartoons! Thank you for helping to bring #development / #congenital back to fashion!!!

Take 2! Clearly better! But I guess I did not publish enough yet on FSGS or nephrotic syndrome... we will take care of it very very soon :)
#Nephsky #Medsky #CAKUT #FSGS #rFSGS #genetics #humangenetics #pediatrics #nephrology

scholargoggler.com

Still needs some tweaking but this is my pubmed cloud! Show me yours!
#Nephsky #Medsky #CAKUT #FSGS #rFSGS #genetics #humangenetics #pediatrics #nephrology

scholargoggler.com

What a welcoming community! I signed up to Bluesky <24h ago and already more than 100 people following.
This looks like the start of a nice relationship :)
#NephSky #MedSky #SkyNeph #CAKUT #FSGS #nephrology #pediatrics #pediatricnephrology #genetics #humangenetics #statisticalgenetics #rFSGS #omics

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney Copy number variations associate with different developmental phenotypes and represent a major cause of congenital anomalies of the kidney and urinary…

And CNV analysis could hint at novel single-gene cause os disease, in this paper from superstart trainee Rik Westland, now independent investigator in Amsterdam
#CAKUT #RareDisease #pediatricnephrology #genetics

www.sciencedirect.com/science/arti...

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RH…

Next set of life events, still related to the dear #pediatricnephrology family: genetic copy number variants (CNVs) in #CAKUT. When finally able to assess the whole genome at sufficient resolution, it became apparent that the contribution of CNV was sizable

www.sciencedirect.com/science/arti...

Renal outcome in patients with congenital anomalies of the kidney and urinary tract Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a major cause of morbidity in children. We measured the risk of progression to end-st…

Since we are restarting from scratch, I'll share, as means of introduction, some key life events.
In my early days, this paper brought me close to the #pediatricnephrology crowd. We al know, if you have to choose a family, #pediatrics is where to look. #CAKUT
www.sciencedirect.com/science/arti...

Migrating here!
Looking to connect with the
#kidneycommunity
#geneticscommunity
and everyone interested in #humangenetics #nephrology #FSGS #rFSGS #nephroticsyndrome #CAKUT #raredisease #genomics #omics #pediatricnephrology #APOL1 #healthequity
#healthcarejustice
@nephsky.bsky.social

Check out this cool new study from Lotte Pedersen's lab.

Covers some of my favorite topics - specifically #cilia protein trafficking/signaling, #kidney development and disease... in this case implicating cilia dysfunction in #CAKUT