Polycystic kidney disease is the most common monogenic cause of kidney failure and affects over 10 million individuals. We've known most PKD is caused by mutations in PKD1 for over 30 years. But how PKD1 prevents disease has remained mysterious, limiting effective therapy.
We are constantly thinking about how to integrate human genetics and better experimental models to identify the mechanisms of human disease @UCSFNephrology, @IHG_at_UCSF, @UCSFDOM . Funding for the next generation of medicine from @NIH.
Critiques and feedback welcome!
Polycystic kidney disease is the most common monogenic cause of kidney failure and affects over 10 million individuals. We've known most PKD is caused by mutations in PKD1 for over 30 years. But how PKD1 prevents disease has remained mysterious, limiting effective therapy.
Thank you @ASNKidney! Our lab is very grateful to receive the 2025 Carl W. Gottschalk Research Scholar Grant. Read more about the work here: https://t.co/GwrWZYe7Hf.
#Whyscience Day51🧠✨A strong finish to our Renal Grand rounds series by a rising star physician scientists @LoebLab @UCSFNephrology Pushing the frontiers of kidney genomics and single cell omics. The future of nephrology is bright🔆
Steven Pinker:
And if you’re still skeptical that universities are worth supporting, consider these questions: Do you think that the number of children who die every year from cancer is just about right?
Exciting paper by @CanaudLab in @jclinicalinvest--https://t.co/TVRn4WBzm4. 1) Somatic mutation as a (presumably) very rare cause of FSGS, 2) Targeting the mutated gene PIK3CA is helpful in multiple mouse FSGS models, 3) Activity of podocyte targeted therapy in mouse FSGS.
@MazeInBiotech Very excited to see genetics loci translated into potential kidney therapeutics. SLC6A19 was one of the 138 kidney function genes we nominate in this @NatureGenet paper: https://t.co/FSiV3lVjO4. How many others would make good targets?