ReNU Syndrome United

Sisters Team Up to Raise Awareness of a Rare Genetic Syndrome - Cornellians | Cornell University After years of medical struggles, Jessica Margrill ’01 finally got a diagnosis for her son; now, she and Heather ’05 are helping others

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

14.02.2026 02:23 — 👍 0    🔁 1    💬 0    📌 0

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

#Renusyndrome
#Renuhope

13.02.2026 04:47 — 👍 0    🔁 0    💬 0    📌 0

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'.

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

04.02.2026 12:11 — 👍 12    🔁 5    💬 1    📌 0

Child Development Research Nutrition and the Microbiome - The Waterloo Foundation The Waterloo Foundation is an independent grant-making Foundation. We are committed to supporting projects that address global inequalities in opportunity and wealth, and those that tackle the…

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...

28.01.2026 02:01 — 👍 1    🔁 0    💬 0    📌 0

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.

09.01.2026 20:43 — 👍 2    🔁 0    💬 0    📌 0

📣 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

08.01.2026 05:19 — 👍 0    🔁 0    💬 0    📌 0

Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies - PubMed Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in…

📣 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

08.01.2026 04:19 — 👍 0    🔁 0    💬 0    📌 0

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

05.01.2026 20:19 — 👍 1    🔁 0    💬 1    📌 0

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

🧬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...

19.12.2025 00:10 — 👍 0    🔁 0    💬 0    📌 0

Thank you @citizen-health.bsky.social for your partnership! 🎉🧬💕

We are excited to accelerate research and ReNU Hope for the future together.

#ReNUsyndrome
#ReNUhope

15.12.2025 19:56 — 👍 1    🔁 0    💬 0    📌 0

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.

12.12.2025 17:56 — 👍 0    🔁 0    💬 0    📌 0

📣 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

12.12.2025 03:14 — 👍 0    🔁 0    💬 0    📌 0