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

Unique @uniquecharity.bsky.social · 6mo ago

1 in 4 people wait at least three years for a rare condition diagnosis. Equity means different things to different people but we can all unite in calling for an end to the #DiagnosticOdyssey and demanding timely and equitable access to specialised care and innovative treatments.

🎙️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

The Genetics Podcast: EP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin of the University of Oxford

This week on The Genetics Podcast, Patrick is joined by Dr. Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at the Big Data Institute, University of Oxford. They discuss t...

eu1.hubs.ly

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

Targeting RNA in Disease with Novel Technologies (TRDNT) Challenge

nih.gov

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

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

alumni.cornell.edu

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...

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…

waterloofoundation.org.uk

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.

IOB - Institute of Molecular and Clinical Ophthalmology Basel@iobswiss.bsky.social · 8mo ago

🧬 Major breakthrough: IOB researchers identify new genetic cause of inherited blindness in overlooked RNA genes. The discovery solves decades-old diagnostic mystery and opens new pathways for many patients worldwide. ➡️ www.nature.com/articles/s41... #AcademicBlueSky #Genetics #VisionResearch #IRDs

📣 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

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…

pubmed.ncbi.nlm.nih.gov

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

Citizen Health@citizen-health.bsky.social · 9mo ago

@renusyndrome.bsky.social is joining Citizen Health to help advance research for families affected by #ReNUsyndrome —making it easier to contribute data and move discovery forward from home: www.citizen.health/ai-advocate/... #RareDisease #PatientAdvocacy #CitizenHealth #AccelerateCures #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.

Innovative Genomics Institute@innovativegenomics.bsky.social · 10mo ago

New from IGI's @bruceconklin.bsky.social!

📣 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