Simone Sanna-Cherchi 🧬

@genetickidneydoc.bsky.social

Professor of Medicine, Pediatrics and Genetics at UPenn and CHOP Leveraging genetic diversity to mitigate kidney disease and inequality #genetics #pediatrics #nephrology #FSGS #rFSGS #CAKUT #humangenetics Views are my own

More than 100 years after #FSGS was first described, we have the first FDA-approved treatment. A proud day for the collaborative #ParasolProject! With the global community uniting to transform glomerular health, this is only the beginning. ⛱️

A Milestone for FSGS — And a Proud Moment for PARASOL

A historic milestone for FSGS patients as the FDA approves the first drug for the condition, highlighting the collaborative efforts behind the PARASOL project's success.

is-gd.org

The cause of CKD in patients with APOL1-HR genotypes is not always APOL1: M1 can help avoiding label diagnosis, identifying individuals in which a full diagnostic workup is indicated. In APOL1 low risk, M1 doesn't confer additional independent protection->no need to treat the entire world population

JAMA Network Open@jamanetworkopen.com · 6mo ago

Among patients with high-risk #APOL1 genotypes, presence of the M1 (p.N264K) variant was associated with improved diagnostic precision for #KidneyDisease, but no protection in low-risk genotypes. ja.ma/4lme1pY

Bar graph titled "Frequency of the M1 variant in individuals with APOL1-HR high-risk genotypes". X axis: Clinical diagnosis (FSGS/SRNS, Non-FSGS CKD, Controls). Y axis: Proportion with M1 (p.N264K). P=text@1, P=text@2, and P=text@3.

🔥Proud to share our latest #PKD prognostic model from CRISP IV In ADPKD pts with normal eGFR we can predict probability of kidney failure 15 years later with C-index >0.8 Uses only TKV + data obtained in usual clinical care

ASN Publications@asnpublications.bsky.social · 8mo ago

Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of kidney failure. This #ASNJASN study developed a multivariable predictive model for progression to kidney failure: kidney.pub/JASN0950 @alanyuneph.bsky.social