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ReNU Syndrome United @renusyndrome.bsky.social · 10/03/2026

The clinical phenotype of #ReNUsyndrome is still evolving. Thanks to Dr. Stacey Cole from @utah.edu, mitochondrial abnormalities are now on our radar. #ReNUhope www.sciencedirect.com/science/arti...

sciencedirect.com

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ReNU Syndrome United @renusyndrome.bsky.social · 27/02/2026

🧬ReNU HOPE CONFERENCE SUMMARY FEATURED in the AMERICAN JOURNAL OF MEDICAL GENETICS!!🧬 onlinelibrary.wiley.com/doi/10.1002/... #ReNUhopeConference #ReNUsyndrome #ReNUhope

onlinelibrary.wiley.com

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ReNU Syndrome United @renusyndrome.bsky.social · 25/02/2026

Whole-genome sequencing is currently needed to diagnose #renusyndrome, creating significant access issues for families seeking answers. We are committed to reducing barriers and improving equity for those on the #diagnosticodyssey. #renuhope

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ReNU Syndrome United @renusyndrome.bsky.social · 17/02/2026

NIH's Targeting RNA in Disease with Novel Technologies (TRDNT) Challenge is funding novel RNA-targeting technology proposals. 🔗 Learn more & prepare to apply: www.nih.gov/challenges/t.... Want to target ReNU!? Let's chat. #nih #rnaresearch #raredisease #renusyndrome #renuhope

nih.gov

Targeting RNA in Disease with Novel Technologies (TRDNT) Challenge

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ReNU Syndrome United @renusyndrome.bsky.social · 13/02/2026

Great sessions at the Invest in Cures forum today. Thanks to UCSF and LaunchBio for hosting this amazing event. #Renusyndrome #Renuhope

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Reposted by ReNU Syndrome United

Nicky Whiffin @nickywhiffin.bsky.social · 04/02/2026

Today I am wearing #blue4ReNU for ReNU Syndrome awareness day 💙 4th February (or 4/2), was chosen by families to reflect the 4-2 in RNU4-2 🧬 ReNU syndrome is a severe neurodevelopmental disorder impacting ~100,000 individuals globally 🧠 🌎 lnkd.in/dvruKxZH #ReNUSyndrome @renusyndrome.bsky.social

Picture of a wrist with a blue sleeve cuff and three blue bracelets: one with beads spelling 'RENU CREW' one with the words 'ReNU Hope' and the third with 'Je suis ReNU'.

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ReNU Syndrome United @renusyndrome.bsky.social · 09/01/2026

De novo and inherited dominant variants in RNU4-2 and RNU6 paralogs cause retinitis pigmentosa. While these variants aren't associated with #ReNUsyndrome, it further expands our knowledge of snRNAs. Thanks for your work on this, @mquinodoz.bsky.social, @carlorivolta.bsky.social, et al.

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ReNU Syndrome United @renusyndrome.bsky.social · 08/01/2026

📣 Research collaboration alert! Salve Therapeutics has identified peptides that increase AAV binding affinity to neuronal receptors and is seeking a wet lab collaborator for in vitro binding studies. Contact Stefan Lukianov for more info. www.salvetherapeutics.com/about-us #ReNUsyndrome #ReNUhope

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ReNU Syndrome United @renusyndrome.bsky.social · 05/01/2026

CONGRATULATIONS @nickywhiffin.bsky.social from @ox.ac.uk for being named in @thetimes.com for the momentous ReNU syndrome discovery and also to Yuyang Chen and all other incredible researchers involved!! 🎉👏🏻🧬 www.thetimes.com/article/sund... #ReNUsyndrome #ReNUhope

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ReNU Syndrome United @renusyndrome.bsky.social · 19/12/2025

🧬New article: Monoallelic & biallelic RNU4-2 variants in neurodevelopmental disorders🧬 “RNU4-2 variants act in both dominant and recessive manners, and that non-critical regions may also harbor disease-causing variants.” #ReNUsyndrome #ReNUhope www.nature.com/articles/s10...

nature.com

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders - Journal of Human Genetics

Journal of Human Genetics - Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders

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ReNU Syndrome United @renusyndrome.bsky.social · 15/12/2025

Thank you @citizen-health.bsky.social for your partnership! 🎉🧬💕 We are excited to accelerate research and ReNU Hope for the future together. #ReNUsyndrome #ReNUhope

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ReNU Syndrome United @renusyndrome.bsky.social · 12/12/2025

CRISPR editing outcomes differ dramatically in non-dividing neurons. @bruceconklin.bsky.social and team characterized prolonged indel accumulation and upregulated DNA repair genes in iPSC-derived neurons. Using a lipid nanoparticle vehicle, the team successfully bundled siRNAs alongside Cas9.

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ReNU Syndrome United @renusyndrome.bsky.social · 12/12/2025

📣 First post alert! 🎉 We just released a CLINICAL COMPANION to provide a clear overview based on the literature to date, bring to doctor appointments, and to share out as needed. Check it out! buff.ly/t3eFTeQ #ReNUsyndrome #ReNUsyndromeunited #ReNUawareness #ReNUhope

renusyndrome.org

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