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Hassan Saei

@hassansaei.bsky.social

18 followers 27 following 4 posts

Postdoctoral researcher @ Imagine Institute in Paris Hereditary disease | genetics and genomics | bioinformatics & big data analysis https://hassansaei.github.io

hassansaei.github.io

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Reposted by Hassan Saei

Jeff Miner @jeffminerphd.bsky.social · Jul 31

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...

Collagen IV in Gould syndrome and Alport syndrome

Nature Reviews Nephrology - In this Review, the authors focus on the role of collagen IV in Gould syndrome and Alport syndrome. They discuss the molecular and phenotypic similarities and...

www.nature.com

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Hassan Saei @hassansaei.bsky.social · Jun 24

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

Reposted by Hassan Saei

Jain_Akanksha_ @akanksha-jain.bsky.social · Jun 23

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

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Hassan Saei @hassansaei.bsky.social · Jun 16

🚨 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

bioRxiv Genetics @biorxiv-genetic.bsky.social · Jun 12

Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome https://www.biorxiv.org/content/10.1101/2025.06.10.658776v1

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Hassan Saei @hassansaei.bsky.social · Feb 6

🚨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

American Journal of Kidney Diseases @ajkd.bsky.social · Feb 6

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

https://bit.ly/4glVIxd

#ADTKD #CKD

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Reposted by Hassan Saei

HKD-lab @hkd-l.bsky.social · Jan 24

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...

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since v…

www.sciencedirect.com

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Hassan Saei @hassansaei.bsky.social · Jan 23

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.

Institut Pasteur Education @pasteuredu.bsky.social · Jan 8

Explore the Highlights of the Institut Pasteur 2024 PhD Graduation Ceremony! 🎓✨

The day was filled with unforgettable moments, from inspiring speeches to joyful celebrations. A huge congratulations again to our graduates!

Dive into the photos & videos of the ceremony 👉 bit.ly/2024PhDCerem...