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...

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

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

🎙️Tune in to Episode 227 of #TheGeneticsPodcast 🚀featuring @nickywhiffin.bsky.social on the discovery and implications of #ReNUsyndrome. Available here👇 🎧 eu1.hubs.ly/H0rXt0j0 📽️ eu1.hubs.ly/H0rXsVV0 #renusyndrome #renuhope

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

ReNU PAG leadership and @cornelluniversity.bsky.social alumni featured in the Cornellians magazine, sharing the story behind founding ReNU Syndrome United and our growing advocacy community. 💙 alumni.cornell.edu/cornellians/... #renusyndrome #renuhope

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

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

UK-based research opportunity for #microbiome and #neurodevelopment. DM to explore this for #ReNUsyndrome. Thanks, Waterloo Foundation, for funding this important work. 🦠 🧬 🧠 waterloofoundation.org.uk/childdevelop...

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.

📣 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

📣 New article alert! First study to recommend systematically checking ReNU4-2 gene in pregnancies with unexplained brain anomalies. pubmed.ncbi.nlm.nih.gov/41449851/ 🧬 🤰 #ReNUsyndrome #ReNUhope

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

🧬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...

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

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.

📣 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