Majmundar Laboratory

TRPC6 inhibition for the treatment of focal segmental glomerulosclerosis: a randomised, placebo-controlled, phase 2 trial of BI 764198 BI 764198 lowered proteinuria and was well tolerated by participants in this trial. This is the first evidence of efficacy with a podocyte-targeted therapy in FSGS. Larger randomised controlled trials...

Sharing a exciting study by Howard Trachtman and colleagues in Lancet demonstrating efficacy of a targeted therapy for genetic FSGS. Exciting development and blueprint for tackling other genetic kidney diseases.

thelancet.com/journals/lancet/article/PIIS0140-6736(25)02255-X/abstract?rss=yes

31.01.2026 20:05 — 👍 1    🔁 0    💬 0    📌 0

Pink and green illustration of lipid nanoparticles against a blue background - the there is text that says Nature Biotechnology on top and the bottom has text that reads Lung delivery using AI-designed lipid nanoparticles

Predicting better lipids: In a cover-winning @natbiotech.nature.com paper, the Anderson & Langer Labs screened 1.6M lipids in silico to speed up successful designs for mRNA delivery to lungs. www.nature.com/articles/s41...

12.12.2025 17:15 — 👍 3    🔁 2    💬 0    📌 0

Genes regulate kidney stones. In our recent editorial, Ken Saida and I review the evolving landscape of Mendelian genetics in KSD and discuss findings from a large cohort analysis in cJASN:
doi.org/10.2215/CJN....

@harvardmed.bsky.social @bostonchildrens.bsky.social

11.12.2025 15:30 — 👍 4    🔁 1    💬 0    📌 0

(4) We generate a more faithful model of NOS1AP-associated nephrotic syndrome and show it is responsive to ACE inhibitor therapy, providing a basis for this therapeutic approach in monogenic nephrotic syndrome.

11.12.2025 15:20 — 👍 0    🔁 0    💬 0    📌 0

(3) For the clinical geneticist, this underscores deep curation of tissue specific gene expression is critical to understanding the impact of genetic variants and function of disease genes.

11.12.2025 15:20 — 👍 1    🔁 0    💬 1    📌 0

(2) New biology: this novel isoform replaces the NOS1 binding domain of NOS1AP with a novel protein sequence (C1orf226) and suggests that unlike in the brain, NOS1AP regulates kidney filter function through NO-independent means.

11.12.2025 15:20 — 👍 1    🔁 0    💬 1    📌 0

Key points:
(1) A previously unannotated intergenic splice isoform of a monogenic kidney disease gene (NOS1AP) is the predominant and biologically relevant kidney isoform in mammals.

11.12.2025 15:20 — 👍 0    🔁 0    💬 1    📌 0

Great collaboration with Florian Buerger, Friedhelm Hildebrandt, Jim Fawcett, @kidneyomicsamps.bsky.social, Markus Rinschen and many others. Huge thanks to all of our students who contributed so much to this work.

#raredisease #nephrology #nephtwitter #medtwitter #kidney #fsgs

11.12.2025 15:20 — 👍 3    🔁 1    💬 1    📌 0

https://www.nature.com/articles/s41467-025-65663-6

In our new @natcomms.nature.com study, we show that intergenic splicing of the NS disease gene/actin regulator NOS1AP is essential for kidney filter function via transcriptomic, proteomic, human genetic & mouse model studies.

@harvardmed.bsky.social @bostonchildrens.bsky.social

t.co/2xegr1OUlm

11.12.2025 15:20 — 👍 3    🔁 0    💬 1    📌 1