🧬 New preprint
We mapped spliceogenic hotspots in deep introns- regions prone to activating cryptic pseudoexons- using in silico mutagenesis, and demonstrated their immediate diagnostic impact and potential for scalable ASO therapy in XL-AS.
Preprint:
www.medrxiv.org/content/10.6...

#ERA26 Jan Halbritter on the challenges in diagnosing #ADTKD #MUC1, but online tool #VNtyper 2 makes it much easier. 👏 @hassansaei.bsky.social @erknet.bsky.social

MucOneUp: A Simulation Framework for MUC1-VNTR Variant Benchmarking https://www.biorxiv.org/content/10.64898/2026.05.08.723876v1

In this organoid model, no collagen IV trimer assembly is detected in the tubular or glomerular basement membranes—ASO treatment restored the defect.
@institutimagine.bsky.social
@upcite.bsky.social

Alport syndrome is a frequent cause of hereditary glomerulonephritis, and some pathogenic variants affect splicing.

Here, Hassan Saei @hassansaei.bsky.social & team establish a kidney organoid platform of AS & correct gene splicing using ASO therapy: doi.org/10.1172/jci....

🚨Happy to share that our research on splice modulation therapy for X-linked Alport syndrome using organoid models has just been published!

I am grateful to all co-authors!
@institutimagine.bsky.social @insight.jci.org @gdorval.bsky.social @hkd-l.bsky.social
insight.jci.org/articles/vie...

Exome sequencing enabled the identification of pathogenic variants in known genes associated with kidney diseases, non-kidney conditions, and multisystem disorders with secondary kidney involvement. Read more in #ASNCJASN kidney.pub/CJASN0905 @hassansaei.bsky.social

I recently developed a FIJI macro 💻 to support our internal need and decided to share it with the wider community, especially those working regularly with microscopy data. The macro is freely available on my GitHub and can be downloaded via Zenodo (link in the comments!)

I first presented the data in this paper at the Philly Podocyte meeting in May 2023 (thanks @ksusztak.bsky.social
& Larry Holzman), and a few days ago the paper appeared in
@kidneyint.bsky.social . Promising results for new ways to treat Alport syndrome. kidney-international.org/article/S008...

Thrilled to have this finally published! If you are interested in learning about the collagen IV diseases Gould syndrome and Alport syndrome, add this to your reading list. www.nature.com/articles/s41...

Excited to be in Basal for BaCell3D!!

Enjoyed discussing with brilliant people working on disease modeling using organoids.

#BaCell3D #organoid #Alport #kidney
@bacell3d.bsky.social

@bacell3d.bsky.social 2025 has begun with a bang! Time for a start selfie!

🚨 Our new preprint is out!
We developed kidney organoid models of X-linked Alport syndrome carrying deep-intronic variants. Through in-depth characterization, we demonstrate their potential as a robust platform for individualized splice-switching therapy development. #Alport #ASO
@hkd-l.bsky.social

🚨Check out our latest paper in AJKD! We highlighted the importance of unbiased and large-scale genetic testing in ADTKD-MUC1.

Using VNtyper, we identified de novo cases and ADTKD was not initially suspected in ~40% of positive cases in our cohort.

#ADTKD #MUC1 #VNtyper

Last publication from the HKD-lab...
Special congratulations to Jessica and @hassansaei.bsky.social as well as to all collaborators!
#kidney #ADTKD #MUC1

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

I am immensely proud to be one of the 2024 Pasteur PhD graduates and deeply grateful to the Pasteur Network for organizing such an unforgettable event.